A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9757057



Internal ID18384617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:70081419..70082607hg38UCSC Ensembl
Outerchr2:70081373..70082646hg38UCSC Ensembl
Innerchr2:70308551..70309739hg19UCSC Ensembl
Outerchr2:70308505..70309778hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg381274
hg191274
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3558310
Supporting Variants
Samples
Known GenesPCBP1-AS1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9757057
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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