A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730279



Internal ID10313915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:66317677..66318738hg38UCSC Ensembl
Outerchr5:65613505..65614566hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg381062
hg191062
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6911103, essv6745767, essv6926263, essv6759844, essv6754331, essv6934476, essv6817919, essv6854897, essv6938787, essv6736799, essv6869931, essv6922850, essv6969144, essv6734211, essv6963353, essv6936818, essv6770582
SamplesSSM027, SSM065, SSM087, SSM050, SSM002, SSM058, SSM028, SSM021, SSM018, SSM061, SSM003, SSM001, SSM015, SSM078, SSM022, SSM055, SSM049
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)esv2730279
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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