A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6858780



Internal ID9909700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:30462811..30462898hg38UCSC Ensembl
Outerchr19:30953718..30953805hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718442, esv2718443, esv2718441
Supporting Variants
SamplesSSM087
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)essv6858780
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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