A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6788531



Internal ID9845909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:81119482..81119888hg38UCSC Ensembl
Outerchr17:79093282..79093688hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38407
hg19407
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716426
Supporting Variants
SamplesSSM069
Known GenesAATK
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)essv6788531
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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