A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730331



Internal ID10313967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:77783025..77786693hg38UCSC Ensembl
Outerchr5:77078849..77082517hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg383669
hg193669
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6872554, essv6841028
SamplesSSM084, SSM091
Known Genes
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)esv2730331
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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