A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13697724



Internal ID3699540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12777440..12783002hg38UCSC Ensembl
Innerchr10:12777440..12783002hg38UCSC Ensembl
Outerchr10:12777191..12783263hg38UCSC Ensembl
chr10:12819439..12825001hg19UCSC Ensembl
Innerchr10:12819439..12825001hg19UCSC Ensembl
Outerchr10:12819190..12825262hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg385563
hg195563
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3622386
Supporting Variants
SamplesNA12283
Known GenesCAMK1D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13697724
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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