A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717857



Internal ID10301493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:1959372..1960099hg38UCSC Ensembl
Outerchr19:1959371..1960098hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38728
hg19728
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6960912, essv6967390, essv6674729, essv6756284, essv6666346, essv6689020, essv6835823, essv6780461, essv6692403
SamplesSSM036, SSM027, SSM058, SSM029, SSM026, SSM035, SSM031, SSM067, SSM082
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)esv2717857
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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