A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10478251



Internal ID3688518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:42066534..42096040hg38UCSC Ensembl
Innerchr2:42066534..42096040hg38UCSC Ensembl
Outerchr2:42066034..42096540hg38UCSC Ensembl
chr2:42293674..42323180hg19UCSC Ensembl
Innerchr2:42293674..42323180hg19UCSC Ensembl
Outerchr2:42293174..42323680hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3829507
hg1929507
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590496
Supporting Variants
SamplesHG03295
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10478251
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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