A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2742265



Internal ID10296381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:57241396..57242033hg38UCSC Ensembl
Outerchr19:57752764..57753401hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg38638
hg19638
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv547e201
Supporting Variantsessv6842342
SamplesSSM010
Known GenesZNF805
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)esv2742265
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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