A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749571



Internal ID10330541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:36662113..36662854hg38UCSC Ensembl
Outerchr15:36954314..36955055hg19UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg38742
hg19742
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6775709, essv6924742, essv6695966, essv6932275, essv6796420, essv6971253, essv6783964, essv6717191, essv6681937, essv6905282, essv6920633, essv6665272, essv6945394, essv6772472, essv6901695, essv6792251, essv6953657, essv6912984, essv6828100, essv6800625, essv6839011, essv6851832, essv6942295, essv6713339, essv6779850, essv6673801, essv6685422, essv6678209, essv6702839, essv6857828
SamplesSSM008, SSM083, SSM071, SSM065, SSM087, SSM039, SSM013, SSM042, SSM023, SSM028, SSM018, SSM029, SSM017, SSM032, SSM003, SSM031, SSM067, SSM086, SSM033, SSM068, SSM072, SSM020, SSM015, SSM080, SSM037, SSM070, SSM025, SSM034, SSM043, SSM012
Known GenesC15orf41
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)esv2749571
Frequency
Sample Size96
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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