A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590061



Internal ID6977389
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10432575, essv10432576
SamplesHG01102, NA19072
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590061
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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