A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734672



Internal ID9969001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:27752230..27752852hg38UCSC Ensembl
Outerchr10:28041159..28041781hg19UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg38623
hg19623
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6866730, essv6819294, essv6700487, essv6677504, essv6709131
SamplesSSM089, SSM032, SSM001, SSM006, SSM078
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)esv2734672
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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