A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6706789



Internal ID10119591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:7852192..7852586hg38UCSC Ensembl
Outerchr17:7755510..7755904hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38395
hg19395
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715604
Supporting Variants
SamplesSSM040
Known GenesKDM6B
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)essv6706789
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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