A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730712



Internal ID10314348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:123089111..123089239hg38UCSC Ensembl
Outerchr5:122424806..122424934hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38129
hg19129
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6708268, essv6848850
SamplesSSM041, SSM086
Known GenesPRDM6
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)esv2730712
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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