A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738972



Internal ID10322608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:116254582..116258557hg38UCSC Ensembl
Outerchr9:119016861..119020836hg19UCSC Ensembl
Cytoband9q33.1
Allele length
AssemblyAllele length
hg383976
hg193976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6923877, essv6915768
SamplesSSM018, SSM016
Known GenesPAPPA
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)esv2738972
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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