A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12328474



Internal ID6757768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:41896982..41897554hg38UCSC Ensembl
Innerchr6:41897019..41897517hg38UCSC Ensembl
Outerchr6:41896945..41897591hg38UCSC Ensembl
chr6:41864720..41865292hg19UCSC Ensembl
Innerchr6:41864757..41865255hg19UCSC Ensembl
Outerchr6:41864683..41865329hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38573
hg19573
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608792
Supporting Variants
SamplesNA20868
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12328474
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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