A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590232



Internal ID6977561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:31953338..31959633hg38UCSC Ensembl
Innerchr2:31953488..31959483hg38UCSC Ensembl
Outerchr2:31953188..31959783hg38UCSC Ensembl
chr2:32178407..32184702hg19UCSC Ensembl
Innerchr2:32178557..32184552hg19UCSC Ensembl
Outerchr2:32178257..32184852hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg386296
hg196296
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10447554
SamplesHG02652
Known GenesMEMO1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590232
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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