A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608879



Internal ID6649112
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12339792, essv12339794, essv12339793
SamplesNA20321, NA20320, NA19043
Known GenesRCAN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608879
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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