A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3559843



Internal ID18760919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:99902039..99908038hg38UCSC Ensembl
Outerchr2:99901808..99908538hg38UCSC Ensembl
Innerchr2:100518501..100524500hg19UCSC Ensembl
Outerchr2:100518270..100525000hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg386731
hg196731
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9758590
Samples
Known GenesAFF3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3559843
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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