A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616934



Internal ID7003820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:38868302..38872346hg38UCSC Ensembl
Innerchr8:38868636..38872296hg38UCSC Ensembl
Outerchr8:38868106..38872542hg38UCSC Ensembl
chr8:38725820..38729864hg19UCSC Ensembl
Innerchr8:38726154..38729814hg19UCSC Ensembl
Outerchr8:38725624..38730060hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg384045
hg194045
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13169163, essv13169170, essv13169168, essv13169173, essv13169164, essv13169165, essv13169167, essv13169166, essv13169175, essv13169172, essv13169174, essv13169171, essv13169176, essv13169169
SamplesHG03548, NA19098, HG03099, HG03520, HG03394, HG01879, HG03078, HG02675, HG03064, HG02613, HG02763, HG02855, HG02851, HG03129
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616934
Frequency
Sample Size2504
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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