A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10304334



Internal ID306150
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588960
Supporting Variants
SamplesHG02122
Known GenesCAPN8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10304334
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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