A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14377833



Internal ID4379649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10915447..10915701hg38UCSC Ensembl
Innerchr12:10915447..10915701hg38UCSC Ensembl
Outerchr12:10915447..10915701hg38UCSC Ensembl
chr12:11068046..11068300hg19UCSC Ensembl
Innerchr12:11068046..11068300hg19UCSC Ensembl
Outerchr12:11068046..11068300hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38255
hg19255
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628548
Supporting Variants
SamplesNA18517
Known GenesPRH1-PRR4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14377833
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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