A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13866598



Internal ID3868414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:77609412..77756383hg38UCSC Ensembl
chr10:79369170..79516141hg19UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg38146972
hg19146972
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3623880
Supporting Variants
SamplesNA18633
Known GenesKCNMA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13866598
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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