A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715534



Internal ID10299170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:3867338..3868620hg38UCSC Ensembl
Outerchr17:3770632..3771914hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg381283
hg191283
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6852206, essv6924960, essv6738327, essv6763779, essv6835503, essv6913256, essv6867949, essv6776320, essv6674209, essv6772735, essv6960376, essv6761414, essv6777711, essv6920892, essv6966847, essv6665745, essv6976417
SamplesSSM008, SSM027, SSM065, SSM050, SSM018, SSM061, SSM029, SSM062, SSM026, SSM089, SSM017, SSM031, SSM086, SSM066, SSM082, SSM015, SSM004
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)esv2715534
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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