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esv275242

  • Variant Calls:2
  • Validation:Not tested
  • Clinical Assertions: No
  • Region Size:13,596

Links to Other Resources

Source: NCBI

Genome View

Select assembly:
Overlapping variant regions from other studies: 172 SVs from 61 studies. See in: genome view    
Remapped(Score: Perfect):48,552,417-48,566,012Question Mark
Overlapping variant regions from other studies: 172 SVs from 61 studies. See in: genome view    
Remapped(Score: Perfect):48,592,013-48,605,608Question Mark
Overlapping variant regions from other studies: 38 SVs from 17 studies. See in: genome view    
Submitted genomic48,562,559-48,576,154Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrOuter StartInner StartInner StopOuter Stop
esv275242RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000007.14Chr748,552,41748,560,57148,563,75548,566,012
esv275242RemappedPerfectGRCh37.p13Primary AssemblyFirst PassNC_000007.13Chr748,592,01348,600,16748,603,35148,605,608
esv275242Submitted genomicNCBI36 (hg18)Primary AssemblyNC_000007.12Chr748,562,55948,570,71348,573,89748,576,154

Variant Call Information

Variant Call IDTypeMethodAnalysis
essv2585717copy number gainSNP arrayOther
essv2586029copy number lossSNP arrayOther

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrOuter StartInner StartInner StopOuter Stop
essv2585717RemappedPerfectNC_000007.14:g.(48
552417_48560571)_(
48563755_48566012)
dup		GRCh38.p12First PassNC_000007.14Chr748,552,41748,560,57148,563,75548,566,012
essv2586029RemappedPerfectNC_000007.14:g.(48
552417_48560571)_(
48563755_48566012)
del		GRCh38.p12First PassNC_000007.14Chr748,552,41748,560,57148,563,75548,566,012
essv2585717RemappedPerfectNC_000007.13:g.(48
592013_48600167)_(
48603351_48605608)
dup		GRCh37.p13First PassNC_000007.13Chr748,592,01348,600,16748,603,35148,605,608
essv2586029RemappedPerfectNC_000007.13:g.(48
592013_48600167)_(
48603351_48605608)
del		GRCh37.p13First PassNC_000007.13Chr748,592,01348,600,16748,603,35148,605,608
essv2585717Submitted genomicNC_000007.12:g.(48
562559_48570713)_(
48573897_48576154)
dup		NCBI36 (hg18)NC_000007.12Chr748,562,55948,570,71348,573,89748,576,154
essv2586029Submitted genomicNC_000007.12:g.(48
562559_48570713)_(
48573897_48576154)
del		NCBI36 (hg18)NC_000007.12Chr748,562,55948,570,71348,573,89748,576,154

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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