A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6715076



Internal ID9648778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:43306273..43388244hg38UCSC Ensembl
Outerchr17:41383635..41465612hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3881972
hg1981978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715954
Supporting Variants
SamplesSSM006
Known GenesLINC00910
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)essv6715076
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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