A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6888834



Internal ID9934292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:56098544..56098855hg38UCSC Ensembl
Outerchr19:56609913..56610224hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2719010
Supporting Variants
SamplesSSM096
Known GenesZNF787
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)essv6888834
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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