A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10412846



Internal ID4256582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:13645401..13647821hg38UCSC Ensembl
Innerchr2:13645416..13647806hg38UCSC Ensembl
Outerchr2:13645386..13647836hg38UCSC Ensembl
chr2:13785526..13787946hg19UCSC Ensembl
Innerchr2:13785541..13787931hg19UCSC Ensembl
Outerchr2:13785511..13787961hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg382421
hg192421
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589851
Supporting Variants
SamplesHG03826
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10412846
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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