A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590137



Internal ID6977466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:27411355..27414014hg38UCSC Ensembl
Innerchr2:27411405..27413839hg38UCSC Ensembl
Outerchr2:27411265..27414104hg38UCSC Ensembl
chr2:27634222..27636881hg19UCSC Ensembl
Innerchr2:27634272..27636706hg19UCSC Ensembl
Outerchr2:27634132..27636971hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg382660
hg192660
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10436665, essv10436662, essv10436664, essv10436661, essv10436663
SamplesHG04001, HG03693, HG03784, HG04026, HG03890
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590137
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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