A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617563



Internal ID7004448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:70376578..70381307hg38UCSC Ensembl
Innerchr8:70376580..70381306hg38UCSC Ensembl
Outerchr8:70376577..70381309hg38UCSC Ensembl
chr8:71288813..71293542hg19UCSC Ensembl
Innerchr8:71288815..71293541hg19UCSC Ensembl
Outerchr8:71288812..71293544hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg384730
hg194730
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1404e214
Supporting Variantsessv13219277, essv13219278, essv13219281, essv13219279, essv13219280
SamplesHG03295, HG03109, HG03557, HG02947, HG02284
Known GenesNCOA2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617563
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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