A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12454078



Internal ID6926182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:83824130..83835408hg38UCSC Ensembl
Innerchr6:83824180..83835358hg38UCSC Ensembl
Outerchr6:83824080..83835458hg38UCSC Ensembl
chr6:84533849..84545127hg19UCSC Ensembl
Innerchr6:84533899..84545077hg19UCSC Ensembl
Outerchr6:84533799..84545177hg19UCSC Ensembl
Cytoband6q14.2
Allele length
AssemblyAllele length
hg3811279
hg1911279
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609785
Supporting Variants
SamplesNA21119
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12454078
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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