A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10840724



Internal ID387846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:213190473..213199169hg38UCSC Ensembl
Innerchr2:213190530..213199113hg38UCSC Ensembl
Outerchr2:213190417..213199226hg38UCSC Ensembl
chr2:214055197..214063893hg19UCSC Ensembl
Innerchr2:214055254..214063837hg19UCSC Ensembl
Outerchr2:214055141..214063950hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg388697
hg198697
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594224
Supporting Variants
SamplesHG00113
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10840724
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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