A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10432576



Internal ID5660030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:23928350..23933239hg38UCSC Ensembl
Innerchr2:23928350..23933239hg38UCSC Ensembl
Outerchr2:23928132..23933457hg38UCSC Ensembl
chr2:24151220..24156109hg19UCSC Ensembl
Innerchr2:24151220..24156109hg19UCSC Ensembl
Outerchr2:24151002..24156327hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg384890
hg194890
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590061
Supporting Variants
SamplesNA19072
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10432576
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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