A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730005



Internal ID10313641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:29642804..29644929hg38UCSC Ensembl
Outerchr5:29642911..29645036hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg382126
hg192126
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6974327, essv6748544, essv6934446, essv6790276
SamplesSSM021, SSM029, SSM070, SSM056
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)esv2730005
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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