A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617644



Internal ID6657839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:73986553..73991926hg38UCSC Ensembl
Innerchr8:73986553..73991926hg38UCSC Ensembl
Outerchr8:73986327..73992254hg38UCSC Ensembl
chr8:74898788..74904161hg19UCSC Ensembl
Innerchr8:74898788..74904161hg19UCSC Ensembl
Outerchr8:74898562..74904489hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg385374
hg195374
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13225889, essv13225892, essv13225886, essv13225888, essv13225891, essv13225893, essv13225887, essv13225895, essv13225894, essv13225890, essv13225885
SamplesHG02549, HG02896, NA19430, HG02613, HG03457, HG02973, NA19471, HG02772, HG02573, HG02570, HG02837
Known GenesLY96
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617644
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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