A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12389794



Internal ID5741101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:63356303..63367930hg38UCSC Ensembl
Innerchr6:63356303..63367930hg38UCSC Ensembl
Outerchr6:63355803..63368430hg38UCSC Ensembl
chr6:64066208..64077835hg19UCSC Ensembl
Innerchr6:64066208..64077835hg19UCSC Ensembl
Outerchr6:64065708..64078335hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg3811628
hg1911628
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609259
Supporting Variants
SamplesNA19116
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12389794
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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