A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12626179



Internal ID2627995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:164270153..164918175hg38UCSC Ensembl
Innerchr6:164270206..164918122hg38UCSC Ensembl
Outerchr6:164270100..164918228hg38UCSC Ensembl
chr6:164691186..165331664hg19UCSC Ensembl
Innerchr6:164691239..165331611hg19UCSC Ensembl
Outerchr6:164691133..165331717hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38648023
hg19640479
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611591
Supporting Variants
SamplesHG00187
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12626179
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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