A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730812



Internal ID10314448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:137516575..137517402hg38UCSC Ensembl
Outerchr5:136852264..136853091hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38828
hg19828
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6841082, essv6947656, essv6865393, essv6736839, essv6782033, essv6754380, essv6727231, essv6697812, essv6730726, essv6872596, essv6848869
SamplesSSM024, SSM038, SSM050, SSM058, SSM084, SSM047, SSM089, SSM086, SSM068, SSM007, 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)esv2730812
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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