A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589586



Internal ID6976915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:12385..18842hg38UCSC Ensembl
Innerchr2:12385..18842hg38UCSC Ensembl
Outerchr2:11885..19342hg38UCSC Ensembl
chr2:12385..18842hg19UCSC Ensembl
Innerchr2:12385..18842hg19UCSC Ensembl
Outerchr2:11885..19342hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg386458
hg196458
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10383030, essv10383029, essv10383031
SamplesHG00634, HG02067, HG02113
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589586
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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