A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12439732



Internal ID1672236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:77565979..77569880hg38UCSC Ensembl
Innerchr6:77566029..77569830hg38UCSC Ensembl
Outerchr6:77565929..77569930hg38UCSC Ensembl
chr6:78275696..78279597hg19UCSC Ensembl
Innerchr6:78275746..78279547hg19UCSC Ensembl
Outerchr6:78275646..78279647hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg383902
hg193902
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609635
Supporting Variants
SamplesHG01531
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12439732
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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