A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731274



Internal ID9965591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:179213708..179214700hg38UCSC Ensembl
Outerchr5:178640709..178641701hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38993
hg19993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6896677, essv6875599, essv6727610, essv6762536, essv6736873, essv6930336, essv6974580
SamplesSSM007, SSM092, SSM099, SSM020, SSM050, SSM062, SSM029
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)esv2731274
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer