A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717980



Internal ID9952271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:4011447..4012287hg38UCSC Ensembl
Outerchr19:4011445..4012285hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38841
hg19841
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6773082, essv6909746, essv6971882, essv6946078, essv6950135, essv6937272
SamplesSSM024, SSM065, SSM023, SSM028, SSM021, SSM014
Known GenesPIAS4
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)esv2717980
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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