A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2713995



Internal ID9948279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:13200583..13202632hg38UCSC Ensembl
Outerchr16:13294440..13296489hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg382050
hg192050
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6862979, essv6831780, essv6824104, essv6874026, essv6877051, essv6699070, essv6768869, essv6752913, essv6709885, essv6945502, essv6747188, essv6803838, essv6846326, essv6885386
SamplesSSM064, SSM079, SSM038, SSM073, SSM088, SSM041, SSM057, SSM023, SSM092, SSM085, SSM081, SSM091, SSM055, SSM095
Known GenesSHISA9
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)esv2713995
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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