A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588960



Internal ID6629251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:223611535..223669687hg38UCSC Ensembl
chr1:223799237..223857389hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3858153
hg1958153
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10304334, essv10304333
SamplesHG02122, HG00457
Known GenesCAPN8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588960
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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