A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589993



Internal ID6977321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:20128533..20138426hg38UCSC Ensembl
Innerchr2:20128533..20138426hg38UCSC Ensembl
Outerchr2:20128033..20138926hg38UCSC Ensembl
chr2:20328294..20338187hg19UCSC Ensembl
Innerchr2:20328294..20338187hg19UCSC Ensembl
Outerchr2:20327794..20338687hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg389894
hg199894
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10425631
SamplesNA19144
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589993
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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