A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14378634



Internal ID4380450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10995613..11052888hg38UCSC Ensembl
Innerchr12:10995649..11052853hg38UCSC Ensembl
Outerchr12:10995578..11052924hg38UCSC Ensembl
chr12:11148212..11205487hg19UCSC Ensembl
Innerchr12:11148248..11205452hg19UCSC Ensembl
Outerchr12:11148177..11205523hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3857276
hg1957276
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628556
Supporting Variants
SamplesNA19681
Known GenesPRH1-PRR4, TAS2R19, TAS2R20, TAS2R31
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14378634
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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