A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730914



Internal ID10314550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:150306613..150307375hg38UCSC Ensembl
Outerchr5:149686176..149686938hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38763
hg19763
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6814192, essv6922911, essv6934546, essv6854999, essv6875567, essv6951725, essv6778035, essv6974513, essv6886842
SamplesSSM087, SSM092, SSM021, SSM018, SSM029, SSM067, SSM077, SSM025, SSM012
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)esv2730914
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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