A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594743



Internal ID6982063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237432804..237437574hg38UCSC Ensembl
Innerchr2:237432813..237437565hg38UCSC Ensembl
Outerchr2:237432795..237437583hg38UCSC Ensembl
chr2:238341447..238346217hg19UCSC Ensembl
Innerchr2:238341456..238346208hg19UCSC Ensembl
Outerchr2:238341438..238346226hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg384771
hg194771
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10886654
SamplesNA18533
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594743
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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