A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6897398



Internal ID10012542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:132622132..132622725hg38UCSC Ensembl
Outerchr10:134435636..134436229hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38594
hg19594
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2743705
Supporting Variants
SamplesSSM012
Known GenesINPP5A
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)essv6897398
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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