A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10597263



Internal ID4425515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:100609490..100612569hg38UCSC Ensembl
Innerchr2:100609490..100612569hg38UCSC Ensembl
Outerchr2:100609412..100612596hg38UCSC Ensembl
chr2:101225952..101229031hg19UCSC Ensembl
Innerchr2:101225952..101229031hg19UCSC Ensembl
Outerchr2:101225874..101229058hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg383080
hg193080
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591758
Supporting Variants
SamplesHG03940
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10597263
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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