A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10561597



Internal ID5292593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:82179519..82209248hg38UCSC Ensembl
Innerchr2:82179519..82209248hg38UCSC Ensembl
Outerchr2:82179019..82209748hg38UCSC Ensembl
chr2:82406643..82436372hg19UCSC Ensembl
Innerchr2:82406643..82436372hg19UCSC Ensembl
Outerchr2:82406143..82436872hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3829730
hg1929730
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591463
Supporting Variants
SamplesNA18747
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10561597
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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