A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15293104



Internal ID5294920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:75363580..75378339hg38UCSC Ensembl
Innerchr15:75363730..75378189hg38UCSC Ensembl
Outerchr15:75363430..75378489hg38UCSC Ensembl
chr15:75655921..75670680hg19UCSC Ensembl
Innerchr15:75656071..75670530hg19UCSC Ensembl
Outerchr15:75655771..75670830hg19UCSC Ensembl
Cytoband15q24.2
Allele length
AssemblyAllele length
hg3814760
hg1914760
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3636926
Supporting Variants
SamplesHG02060
Known GenesMAN2C1, SIN3A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15293104
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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