A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3553067



Internal ID18754143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:16131950..16133745hg38UCSC Ensembl
Outerchr2:16131498..16133777hg38UCSC Ensembl
Innerchr2:16272072..16273867hg19UCSC Ensembl
Outerchr2:16271620..16273899hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg382280
hg192280
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv234e215
Supporting Variantsessv9751814
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3553067
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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