A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3622217



Internal ID7009076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:4992214..5045006hg38UCSC Ensembl
chr10:5034406..5087198hg19UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg3852793
hg1952793
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13685324
SamplesHG01762
Known GenesAKR1C2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3622217
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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