A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734750



Internal ID9969080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:27940059..27940536hg38UCSC Ensembl
Outerchr10:28228988..28229465hg19UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg38478
hg19478
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6968651, essv6740784
SamplesSSM052, SSM004
Known GenesARMC4
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)esv2734750
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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