A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6907255



Internal ID9673322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:35191059..35191332hg38UCSC Ensembl
Outerchr5:35191161..35191434hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38274
hg19274
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730063
Supporting Variants
SamplesSSM014
Known GenesPRLR
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)essv6907255
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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