A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3610497



Internal ID6997414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:117525326..117529394hg38UCSC Ensembl
Innerchr6:117525326..117529394hg38UCSC Ensembl
Outerchr6:117525080..117529602hg38UCSC Ensembl
chr6:117846489..117850557hg19UCSC Ensembl
Innerchr6:117846489..117850557hg19UCSC Ensembl
Outerchr6:117846243..117850765hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg384069
hg194069
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12515781, essv12515782
SamplesHG00106, NA12777
Known GenesDCBLD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3610497
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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