A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6905839



Internal ID9669954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:30500383..30500807hg38UCSC Ensembl
Outerchr19:30991290..30991714hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg38425
hg19425
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718444
Supporting Variants
SamplesSSM013
Known GenesZNF536
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)essv6905839
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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