A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13696587



Internal ID3698403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12454812..12458338hg38UCSC Ensembl
Innerchr10:12454812..12458338hg38UCSC Ensembl
Outerchr10:12454637..12458486hg38UCSC Ensembl
chr10:12496811..12500337hg19UCSC Ensembl
Innerchr10:12496811..12500337hg19UCSC Ensembl
Outerchr10:12496636..12500485hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg383527
hg193527
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3622373
Supporting Variants
SamplesHG00337
Known GenesCAMK1D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13696587
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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