A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6828443



Internal ID10229081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:83012001..83012230hg38UCSC Ensembl
Outerchr17:80969877..80970106hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38230
hg19230
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716591
Supporting Variants
SamplesSSM080
Known GenesB3GNTL1
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)essv6828443
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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