A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6693876



Internal ID9994329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:19723602..19728898hg38UCSC Ensembl
Outerchr19:19834411..19839707hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg385297
hg195297
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718294
Supporting Variants
SamplesSSM005
Known GenesZNF14
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)essv6693876
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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