A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739016



Internal ID10322652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:123327561..123328319hg38UCSC Ensembl
Outerchr9:126089840..126090598hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38759
hg19759
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6939903, essv6705830, essv6895388, essv6791411, essv6775313, essv6923883, essv6952777, essv6695088, essv6944437, essv6935646, essv6856533
SamplesSSM087, SSM023, SSM021, SSM018, SSM066, SSM040, SSM037, SSM022, SSM070, SSM025, SSM012
Known Genes
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)esv2739016
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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