A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9744661



Internal ID18372221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:12518535..12520862hg38UCSC Ensembl
Outerchr10:12518366..12521043hg38UCSC Ensembl
Innerchr10:12560534..12562861hg19UCSC Ensembl
Outerchr10:12560365..12563042hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg382678
hg192678
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3545914
Supporting Variants
Samples
Known GenesCAMK1D
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9744661
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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