A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717865



Internal ID10301501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:1967756..1968430hg38UCSC Ensembl
Outerchr19:1967755..1968429hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38675
hg19675
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv488e201
Supporting Variantsessv6921282, essv6773075
SamplesSSM065, SSM017
Known GenesCSNK1G2
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)esv2717865
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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