A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3610548



Internal ID6997465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:119641625..119698055hg38UCSC Ensembl
Innerchr6:119641627..119698053hg38UCSC Ensembl
Outerchr6:119641623..119698057hg38UCSC Ensembl
chr6:119962786..120019212hg19UCSC Ensembl
Innerchr6:119962788..120019210hg19UCSC Ensembl
Outerchr6:119962784..120019214hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3856431
hg1956427
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12520105
SamplesHG01125
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3610548
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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