A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3622724



Internal ID6662893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:27412809..27505337hg38UCSC Ensembl
chr10:27701738..27794266hg19UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg3892529
hg1992529
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13733525
SamplesHG00631
Known GenesPTCHD3, RAB18
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3622724
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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