A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672322



Internal ID9938427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:642680..643677hg38UCSC Ensembl
chr7:682317..683314hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38998
hg19998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1177e199
Supporting Variantsessv6142431, essv5638389, essv6244760, essv5571113, essv6156300, essv6546153, essv5914155, essv6525160
SamplesNA19466, NA19359, NA19457, NA19371, NA19469, NA19380, NA19713, HG00372
Known GenesPRKAR1B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672322
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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