A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3611783



Internal ID6998687
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12657943, essv12657942, essv12657938, essv12657944, essv12657940, essv12657939, essv12657941, essv12657937, essv12657945
SamplesNA19384, HG03270, NA18934, NA19320, NA19625, NA18517, NA19324, HG03313, HG03686
Known GenesPRKAR1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3611783
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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