A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594688



Internal ID6982008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:234335259..234343560hg38UCSC Ensembl
Innerchr2:234335260..234343559hg38UCSC Ensembl
Outerchr2:234335258..234343561hg38UCSC Ensembl
chr2:235243903..235252204hg19UCSC Ensembl
Innerchr2:235243904..235252203hg19UCSC Ensembl
Outerchr2:235243902..235252205hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg388302
hg198302
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10879815
SamplesNA18596
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594688
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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