A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749845



Internal ID10330815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:70729495..70735217hg38UCSC Ensembl
Outerchr15:71021834..71027556hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg385723
hg195723
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6851883, essv6744320, essv6665337, essv6747155, essv6699040, essv6749986, essv6897952, essv6966474, essv6668427, essv6905302, essv6728711, essv6752867, essv6820206, essv6953687, essv6735458, essv6768824, essv6831727, essv6913001
SamplesSSM027, SSM046, SSM064, SSM038, SSM013, SSM057, SSM029, SSM086, SSM081, SSM015, SSM078, SSM053, SSM055, SSM025, SSM099, SSM049, SSM056, SSM030
Known GenesUACA
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)esv2749845
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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