A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10798730



Internal ID5116564
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593744
Supporting Variants
SamplesNA18561
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10798730
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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