A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718824



Internal ID9953116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:53491528..53492038hg38UCSC Ensembl
Outerchr19:53994782..53995292hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38511
hg19511
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6744767, essv6858829
SamplesSSM087, SSM053
Known GenesZNF813
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)esv2718824
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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