A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10468202



Internal ID3859769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:38442093..38477628hg38UCSC Ensembl
Innerchr2:38442128..38477593hg38UCSC Ensembl
Outerchr2:38442058..38477663hg38UCSC Ensembl
chr2:38669235..38704770hg19UCSC Ensembl
Innerchr2:38669270..38704735hg19UCSC Ensembl
Outerchr2:38669200..38704805hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3835536
hg1935536
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590415
Supporting Variants
SamplesHG03490
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10468202
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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