A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730063



Internal ID9964379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:35191036..35191357hg38UCSC Ensembl
Outerchr5:35191138..35191459hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6767328, essv6930222, essv6938766, essv6907255, essv6893276, essv6726896, essv6899495, essv6700783, essv6811106, essv6781978, essv6848737, essv6860510, essv6798594
SamplesSSM022, SSM086, SSM088, SSM064, SSM072, SSM020, SSM039, SSM100, SSM046, SSM068, SSM014, SSM098, SSM076
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)esv2730063
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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