A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6910753



Internal ID9676976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:1240383..1240601hg38UCSC Ensembl
Outerchr4:1234171..1234389hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38219
hg19219
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726769
Supporting Variants
SamplesSSM015
Known GenesCTBP1
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)essv6910753
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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