A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589997



Internal ID6977325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:20569160..20576122hg38UCSC Ensembl
Innerchr2:20569160..20576122hg38UCSC Ensembl
Outerchr2:20568923..20576327hg38UCSC Ensembl
chr2:20768920..20775882hg19UCSC Ensembl
Innerchr2:20768920..20775882hg19UCSC Ensembl
Outerchr2:20768683..20776087hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg386963
hg196963
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10425635
SamplesNA18538
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589997
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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