A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10840747



Internal ID5313874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:213250828..213251409hg38UCSC Ensembl
Innerchr2:213250878..213251359hg38UCSC Ensembl
Outerchr2:213250750..213251487hg38UCSC Ensembl
chr2:214115552..214116133hg19UCSC Ensembl
Innerchr2:214115602..214116083hg19UCSC Ensembl
Outerchr2:214115474..214116211hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg38582
hg19582
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594228
Supporting Variants
SamplesNA18864
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10840747
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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