A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715537



Internal ID10299173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:3868137..3868331hg38UCSC Ensembl
Outerchr17:3771431..3771625hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38195
hg19195
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv406e201
Supporting Variantsessv6835503, essv6674209, essv6960376
SamplesSSM026, SSM031, SSM082
Known GenesCAMKK1
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)esv2715537
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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