A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12180104



Internal ID6671195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:5863716..5877687hg38UCSC Ensembl
Innerchr6:5863719..5877685hg38UCSC Ensembl
Outerchr6:5863714..5877690hg38UCSC Ensembl
chr6:5863949..5877920hg19UCSC Ensembl
Innerchr6:5863952..5877918hg19UCSC Ensembl
Outerchr6:5863947..5877923hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg3813972
hg1913972
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607983
Supporting Variants
SamplesNA20810
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12180104
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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