A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10487667



Internal ID1725020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:46223291..46231153hg38UCSC Ensembl
Innerchr2:46223293..46231151hg38UCSC Ensembl
Outerchr2:46223289..46231155hg38UCSC Ensembl
chr2:46450430..46458292hg19UCSC Ensembl
Innerchr2:46450432..46458290hg19UCSC Ensembl
Outerchr2:46450428..46458294hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg387863
hg197863
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590603
Supporting Variants
SamplesHG01600
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10487667
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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