A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746863



Internal ID10327833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:36283633..36283769hg38UCSC Ensembl
Outerchr1:36749234..36749370hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38137
hg19137
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6885996, essv6853267
SamplesSSM087, SSM096
Known GenesTHRAP3
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)esv2746863
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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