A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12553373



Internal ID792673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:132054051..132057854hg38UCSC Ensembl
Innerchr6:132054051..132057854hg38UCSC Ensembl
Outerchr6:132053949..132057988hg38UCSC Ensembl
chr6:132375191..132378994hg19UCSC Ensembl
Innerchr6:132375191..132378994hg19UCSC Ensembl
Outerchr6:132375089..132379128hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg383804
hg193804
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610829
Supporting Variants
SamplesHG00376
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12553373
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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