A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6871449



Internal ID9921102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:5076271..5076545hg38UCSC Ensembl
Outerchr19:5076282..5076556hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718038, esv2718039
Supporting Variants
SamplesSSM090
Known GenesKDM4B
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)essv6871449
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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