A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12537209



Internal ID3672356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:125594913..125598997hg38UCSC Ensembl
Innerchr6:125594923..125598988hg38UCSC Ensembl
Outerchr6:125594904..125599007hg38UCSC Ensembl
chr6:125916059..125920143hg19UCSC Ensembl
Innerchr6:125916069..125920134hg19UCSC Ensembl
Outerchr6:125916050..125920153hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg384085
hg194085
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610692
Supporting Variants
SamplesHG03270
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12537209
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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