A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6946837



Internal ID9710468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:96481909..96482057hg38UCSC Ensembl
Outerchr2:97147646..97147794hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38149
hg19149
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720400, esv2720413, esv2720404
Supporting Variants
SamplesSSM024
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6946837
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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