A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731281



Internal ID9965598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:179262901..179263214hg38UCSC Ensembl
Outerchr5:178689902..178690215hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6911197, essv6887097
SamplesSSM012, SSM015
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)esv2731281
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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