A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730061



Internal ID9964377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:35187072..35189369hg38UCSC Ensembl
Outerchr5:35187174..35189471hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg382298
hg192298
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6726895, essv6922827, essv6934453, essv6811105, essv6683781, essv6969120, essv6914886
SamplesSSM046, SSM028, SSM021, SSM018, SSM016, SSM076, SSM034
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)esv2730061
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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