A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590069



Internal ID6977397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:24427596..24428960hg38UCSC Ensembl
Innerchr2:24427596..24428960hg38UCSC Ensembl
Outerchr2:24427446..24429135hg38UCSC Ensembl
chr2:24650465..24651829hg19UCSC Ensembl
Innerchr2:24650465..24651829hg19UCSC Ensembl
Outerchr2:24650315..24652004hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg381365
hg191365
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10432838
SamplesHG00543
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590069
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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