A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10840757



Internal ID2115223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:213389363..213401058hg38UCSC Ensembl
Innerchr2:213389363..213401058hg38UCSC Ensembl
Outerchr2:213388863..213401558hg38UCSC Ensembl
chr2:214254087..214265782hg19UCSC Ensembl
Innerchr2:214254087..214265782hg19UCSC Ensembl
Outerchr2:214253587..214266282hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3811696
hg1911696
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594235
Supporting Variants
SamplesHG01923
Known GenesSPAG16
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10840757
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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