A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717856



Internal ID10301492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:1950195..1951948hg38UCSC Ensembl
Outerchr19:1950194..1951947hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381754
hg191754
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6761628, essv6954299, essv6756283, essv6666188, essv6778043, essv6735779
SamplesSSM058, SSM061, SSM001, SSM025, SSM004, SSM049
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)esv2717856
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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