A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733206



Internal ID9967529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:12691383..12691501hg38UCSC Ensembl
Outerchr10:12733382..12733500hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38119
hg19119
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6850639, essv6908510
SamplesSSM086, SSM014
Known GenesCAMK1D
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)esv2733206
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer