A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3558510



Internal ID18412900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:73203837..73204099hg38UCSC Ensembl
Outerchr2:73203774..73204161hg38UCSC Ensembl
Innerchr2:73430965..73431227hg19UCSC Ensembl
Outerchr2:73430902..73431289hg19UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg38388
hg19388
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9757257
Samples
Known GenesNOTO
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3558510
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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