A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6921331



Internal ID9684788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:21119099..21656652hg38UCSC Ensembl
Outerchr19:21301902..21839454hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38537554
hg19537553
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718325
Supporting Variants
SamplesSSM017
Known GenesLINC00664, ZNF429, ZNF431, ZNF493, ZNF708, ZNF714, ZNF738
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)essv6921331
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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