A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12182922



Internal ID5138145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:7433183..7509170hg38UCSC Ensembl
Innerchr6:7433333..7509020hg38UCSC Ensembl
Outerchr6:7433033..7509320hg38UCSC Ensembl
chr6:7433416..7509403hg19UCSC Ensembl
Innerchr6:7433566..7509253hg19UCSC Ensembl
Outerchr6:7433266..7509553hg19UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg3875988
hg1975988
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608009
Supporting Variants
SamplesNA18571
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12182922
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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