A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2741539



Internal ID10295655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:118248302..118248444hg38UCSC Ensembl
Outerchr10:120007814..120007956hg19UCSC Ensembl
Cytoband10q26.11
Allele length
AssemblyAllele length
hg38143
hg19143
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6976686, essv6695286, essv6919897, essv6702194, essv6783302
SamplesSSM039, SSM029, SSM017, SSM068, SSM037
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)esv2741539
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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