A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6696245



Internal ID10107870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:6274276..6274595hg38UCSC Ensembl
Outerchr17:6177596..6177915hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715583
Supporting Variants
SamplesSSM037
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)essv6696245
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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