A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749915



Internal ID9984199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:78791705..78792571hg38UCSC Ensembl
Outerchr15:79084047..79084913hg19UCSC Ensembl
Cytoband15q25.1
Allele length
AssemblyAllele length
hg38867
hg19867
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv308e201
Supporting Variantsessv6744326, essv6877005, essv6772501, essv6761283, essv6699047, essv6936609, essv6913010, essv6741452, essv6741575, essv6857894, essv6775986, essv6678250
SamplesSSM008, SSM065, SSM087, SSM038, SSM092, SSM021, SSM061, SSM032, SSM007, SSM015, SSM053, SSM052
Known GenesADAMTS7
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)esv2749915
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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