A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749895



Internal ID9984179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:75415580..76472296hg38UCSC Ensembl
Outerchr15:75707921..76764637hg19UCSC Ensembl
Cytoband15q24.2
Allele length
AssemblyAllele length
hg381056717
hg191056717
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6916510, essv6867711, essv6835275, essv6867708, essv6869553, essv6688627, essv6846277, essv6913008, essv6877002, essv6738202, essv6748042, essv6713367, essv6728714
SamplesSSM046, SSM011, SSM050, SSM042, SSM092, SSM089, SSM035, SSM001, SSM085, SSM082, SSM015, SSM016
Known GenesC15orf27, CSPG4, DNM1P35, ETFA, FBXO22, FBXO22-AS1, IMP3, ISL2, MIR4313, NRG4, ODF3L1, PTPN9, SCAPER, SIN3A, SNUPN, SNX33, TYRO3P, UBE2Q2
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)esv2749895
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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