A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593744



Internal ID6981067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:189482056..189482862hg38UCSC Ensembl
Innerchr2:189482056..189482862hg38UCSC Ensembl
Outerchr2:189482002..189482956hg38UCSC Ensembl
chr2:190346782..190347588hg19UCSC Ensembl
Innerchr2:190346782..190347588hg19UCSC Ensembl
Outerchr2:190346728..190347682hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg38807
hg19807
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10798730
SamplesNA18561
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593744
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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