A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749767



Internal ID9984051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:62655561..62655711hg38UCSC Ensembl
Outerchr15:62947760..62947910hg19UCSC Ensembl
Cytoband15q22.2
Allele length
AssemblyAllele length
hg38151
hg19151
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6857855, essv6959969, essv6820192, essv6862892, essv6966454, essv6851861, essv6665316, essv6867682, essv6673836
SamplesSSM027, SSM086, SSM078, SSM088, SSM089, SSM031, SSM029, SSM087, SSM026
Known GenesTLN2
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)esv2749767
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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