A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590552



Internal ID6630838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:44277117..44279008hg38UCSC Ensembl
Innerchr2:44277173..44278952hg38UCSC Ensembl
Outerchr2:44277061..44279064hg38UCSC Ensembl
chr2:44504256..44506147hg19UCSC Ensembl
Innerchr2:44504312..44506091hg19UCSC Ensembl
Outerchr2:44504200..44506203hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg381892
hg191892
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10483354
SamplesNA19475
Known GenesSLC3A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590552
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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