A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6704256



Internal ID10117312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:235043404..235043722hg38UCSC Ensembl
Outerchr2:235952048..235952366hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721684
Supporting Variants
SamplesSSM040
Known GenesSH3BP4
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)essv6704256
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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