A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730064



Internal ID9964380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:35195875..35196292hg38UCSC Ensembl
Outerchr5:35195977..35196394hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38418
hg19418
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6841007, essv6680186, essv6956609, essv6922828, essv6786152, essv6670749, essv6790280, essv6814114, essv6719188, essv6777939, essv6938767
SamplesSSM084, SSM018, SSM069, SSM026, SSM031, SSM067, SSM044, SSM033, SSM077, SSM022, SSM070
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)esv2730064
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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