A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6700226



Internal ID9769870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:53517229..53517337hg38UCSC Ensembl
Outerchr3:53551256..53551364hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg38109
hg19109
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725284
Supporting Variants
SamplesSSM039
Known GenesCACNA1D
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)essv6700226
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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