A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737418



Internal ID9971756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:59218463..59219308hg38UCSC Ensembl
Outerchr10:60978223..60979068hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38846
hg19846
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6935800, essv6976601, essv6746596, essv6842146, essv6948755, essv6728036
SamplesSSM024, SSM046, SSM084, SSM021, SSM029, SSM055
Known GenesPHYHIPL
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)esv2737418
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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