A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749850



Internal ID10330820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:71589129..71590635hg38UCSC Ensembl
Outerchr15:71881468..71882974hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg381507
hg191507
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6857880, essv6775942, essv6831729, essv6885359, essv6974762, essv6971275, essv6766021, essv6820208, essv6806701, essv6792281, essv6815815, essv6953688, essv6942473, essv6895032, essv6882651, essv6862907, essv6779878, essv6949530, essv6702875, essv6945434, essv6713654, essv6758521, essv6966475, essv6905305, essv6747931, essv6932303, essv6690110, essv6888319
SamplesSSM059, SSM008, SSM027, SSM024, SSM087, SSM039, SSM013, SSM074, SSM088, SSM023, SSM028, SSM096, SSM094, SSM003, SSM067, SSM001, SSM006, SSM081, SSM020, SSM078, SSM005, SSM077, SSM070, SSM095, SSM025, SSM004, SSM098, SSM063
Known GenesTHSD4
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)esv2749850
Frequency
Sample Size96
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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