A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590257



Internal ID6630544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:32647800..32649421hg38UCSC Ensembl
Innerchr2:32647803..32649418hg38UCSC Ensembl
Outerchr2:32647797..32649424hg38UCSC Ensembl
chr2:32872867..32874488hg19UCSC Ensembl
Innerchr2:32872870..32874485hg19UCSC Ensembl
Outerchr2:32872864..32874491hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg381622
hg191622
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10447726, essv10447727, essv10447733, essv10447730, essv10447729, essv10447731, essv10447732, essv10447728
SamplesHG03693, HG02681, HG04214, HG03808, HG04198, HG03945, HG02728, NA20863
Known GenesTTC27
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590257
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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