A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734151



Internal ID9968477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:24988534..24988896hg38UCSC Ensembl
Outerchr10:25277463..25277825hg19UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg38363
hg19363
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6783204, essv6712718, essv6688022, essv6976524, essv6672618, essv6912273
SamplesSSM042, SSM029, SSM035, SSM031, SSM068, SSM015
Known GenesENKUR
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)esv2734151
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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