A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730327



Internal ID10313963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:77097686..77097843hg38UCSC Ensembl
Outerchr5:76393511..76393668hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38158
hg19158
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6719212, essv6700811
SamplesSSM039, SSM044
Known GenesZBED3-AS1
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)esv2730327
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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