A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6877003



Internal ID9926098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:75326873..75749851hg38UCSC Ensembl
Outerchr15:75619214..76042192hg19UCSC Ensembl
Cytoband15q24.2
Allele length
AssemblyAllele length
hg38422979
hg19422979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749894
Supporting Variants
SamplesSSM092
Known GenesCOMMD4, CSPG4, DNM1P35, IMP3, MAN2C1, MIR631, NEIL1, ODF3L1, PTPN9, SIN3A, SNUPN, SNX33
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)essv6877003
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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