A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717767



Internal ID10301403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:688941..689435hg38UCSC Ensembl
Outerchr19:688941..689435hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38495
hg19495
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6843463, essv6699369, essv6937252, essv6807108, essv6928741, essv6868345, essv6950125
SamplesSSM024, SSM038, SSM074, SSM084, SSM021, SSM089, SSM019
Known GenesPRSS57
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)esv2717767
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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