A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14586016



Internal ID4587832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:98878055..98879772hg38UCSC Ensembl
Innerchr12:98878055..98879772hg38UCSC Ensembl
Outerchr12:98877811..98880034hg38UCSC Ensembl
chr12:99271833..99273550hg19UCSC Ensembl
Innerchr12:99271833..99273550hg19UCSC Ensembl
Outerchr12:99271589..99273812hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg381718
hg191718
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630515
Supporting Variants
SamplesHG01986
Known GenesANKS1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14586016
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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