A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13696193



Internal ID3698009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12067701..12069368hg38UCSC Ensembl
Innerchr10:12067721..12069348hg38UCSC Ensembl
Outerchr10:12067681..12069388hg38UCSC Ensembl
chr10:12109700..12111367hg19UCSC Ensembl
Innerchr10:12109720..12111347hg19UCSC Ensembl
Outerchr10:12109680..12111387hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg381668
hg191668
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3622356
Supporting Variants
SamplesNA19437
Known GenesDHTKD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13696193
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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