A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6873437



Internal ID9922890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:18214194..18214642hg38UCSC Ensembl
Outerchr10:18503123..18503571hg19UCSC Ensembl
Cytoband10p12.33
Allele length
AssemblyAllele length
hg38449
hg19449
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2733695
Supporting Variants
SamplesSSM091
Known GenesCACNB2
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)essv6873437
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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