A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6966487



Internal ID9726209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:75764003..77932544hg38UCSC Ensembl
Outerchr15:76056344..78224886hg19UCSC Ensembl
Cytoband15q24.2
Allele length
AssemblyAllele length
hg382168542
hg192168543
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749898
Supporting Variants
SamplesSSM027
Known GenesC15orf27, ETFA, FBXO22, FBXO22-AS1, HMG20A, ISL2, LINC00597, LINGO1, LOC253044, LOC645752, NRG4, PEAK1, PSTPIP1, RCN2, SCAPER, TSPAN3, 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)essv6966487
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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