A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14587019



Internal ID4588835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99671239..99733815hg38UCSC Ensembl
chr12:100065017..100127593hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3862577
hg1962577
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630534
Supporting Variants
SamplesNA20287
Known GenesANKS1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14587019
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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