A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12520105



Internal ID1280454
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610548
Supporting Variants
SamplesHG01125
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12520105
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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