A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6690217



Internal ID9759619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:33688290..33688437hg38UCSC Ensembl
Outerchr5:33688395..33688542hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730049, esv2730048
Supporting Variants
SamplesSSM036
Known GenesADAMTS12
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)essv6690217
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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