A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6966488



Internal ID9726220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:75765155..77933699hg38UCSC Ensembl
Outerchr15:76057496..78226041hg19UCSC Ensembl
Cytoband15q24.2
Allele length
AssemblyAllele length
hg382168545
hg192168546
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)essv6966488
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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