A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12339793



Internal ID2341609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:46260880..46262286hg38UCSC Ensembl
Innerchr6:46260880..46262286hg38UCSC Ensembl
Outerchr6:46260638..46262505hg38UCSC Ensembl
chr6:46228617..46230023hg19UCSC Ensembl
Innerchr6:46228617..46230023hg19UCSC Ensembl
Outerchr6:46228375..46230242hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg381407
hg191407
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608879
Supporting Variants
SamplesNA20320
Known GenesRCAN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12339793
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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