A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739984



Internal ID10323620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:98407690..98407901hg38UCSC Ensembl
Outerchr10:100167447..100167658hg19UCSC Ensembl
Cytoband10q24.2
Allele length
AssemblyAllele length
hg38212
hg19212
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6866800, essv6677559, essv6882130
SamplesSSM089, SSM094, SSM032
Known GenesPYROXD2
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)esv2739984
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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