A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590235



Internal ID6977564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:31976328..31978146hg38UCSC Ensembl
Innerchr2:31976371..31978103hg38UCSC Ensembl
Outerchr2:31976285..31978189hg38UCSC Ensembl
chr2:32201397..32203215hg19UCSC Ensembl
Innerchr2:32201440..32203172hg19UCSC Ensembl
Outerchr2:32201354..32203258hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg381819
hg191819
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10447558
SamplesHG00237
Known GenesMEMO1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590235
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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