A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12657943



Internal ID5913602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:672427..673584hg38UCSC Ensembl
Innerchr7:672477..673534hg38UCSC Ensembl
Outerchr7:672363..673648hg38UCSC Ensembl
chr7:712064..713221hg19UCSC Ensembl
Innerchr7:712114..713171hg19UCSC Ensembl
Outerchr7:712000..713285hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg381158
hg191158
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611783
Supporting Variants
SamplesNA19324
Known GenesPRKAR1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12657943
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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