A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14587085



Internal ID4588901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99884244..100071236hg38UCSC Ensembl
chr12:100278022..100465014hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38186993
hg19186993
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630541
Supporting Variants
SamplesHG00351
Known GenesANKS1B, UHRF1BP1L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14587085
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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