A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743582



Internal ID9977866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:131916984..131917871hg38UCSC Ensembl
Outerchr10:133730488..133731375hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38888
hg19888
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6724276, essv6948836, essv6795795
SamplesSSM071, SSM024, SSM045
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)esv2743582
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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