A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731272



Internal ID9965589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:179134660..179135285hg38UCSC Ensembl
Outerchr5:178561661..178562286hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38626
hg19626
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6727018, essv6822341, essv6798717
SamplesSSM072, SSM046, SSM079
Known GenesADAMTS2
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)esv2731272
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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