A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717858



Internal ID10301494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:1959601..1959827hg38UCSC Ensembl
Outerchr19:1959600..1959826hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38227
hg19227
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6960912, essv6674729, essv6756284, essv6666346
SamplesSSM058, SSM029, SSM026, SSM031
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)esv2717858
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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