A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734717



Internal ID9969046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:27753010..27753527hg38UCSC Ensembl
Outerchr10:28041939..28042456hg19UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg38518
hg19518
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6771757, essv6935769, essv6845695
SamplesSSM065, SSM085, SSM021
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)esv2734717
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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