A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13696589



Internal ID3698405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12486188..12491825hg38UCSC Ensembl
Innerchr10:12486199..12491814hg38UCSC Ensembl
Outerchr10:12486177..12491836hg38UCSC Ensembl
chr10:12528187..12533824hg19UCSC Ensembl
Innerchr10:12528198..12533813hg19UCSC Ensembl
Outerchr10:12528176..12533835hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg385638
hg195638
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3622374
Supporting Variants
SamplesNA18916
Known GenesCAMK1D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13696589
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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