A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718566



Internal ID9952858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:40589143..40589294hg38UCSC Ensembl
Outerchr19:41095049..41095200hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38152
hg19152
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6946149
SamplesSSM023
Known GenesSHKBP1
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)esv2718566
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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