A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10961121



Internal ID962937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:27176097..27379590hg38UCSC Ensembl
chr3:27217588..27421081hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg38203494
hg19203494
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595661
Supporting Variants
SamplesHG03369
Known GenesNEK10, SLC4A7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10961121
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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