A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10753757



Internal ID864788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:168562803..168566899hg38UCSC Ensembl
Innerchr2:168562810..168566893hg38UCSC Ensembl
Outerchr2:168562797..168566906hg38UCSC Ensembl
chr2:169419313..169423409hg19UCSC Ensembl
Innerchr2:169419320..169423403hg19UCSC Ensembl
Outerchr2:169419307..169423416hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg384097
hg194097
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593313
Supporting Variants
SamplesHG00452
Known GenesCERS6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10753757
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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