A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658063



Internal ID9924168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:642688..643677hg38UCSC Ensembl
chr7:682325..683314hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38990
hg19990
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1177e199
Supporting Variantsessv6223608, essv6028405, essv6304510, essv5853290, essv6454277, essv6311519, essv5999925, essv6188557, essv5956349, essv6052078, essv5851276, essv5710651, essv6336542, essv5916352, essv6051698
SamplesNA12751, NA19190, NA07346, NA19131, NA11918, NA19239, NA19200, NA18907, NA19160, NA19108, NA19240, NA18501, NA19093, NA19129, NA18522
Known GenesPRKAR1B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658063
Frequency
Sample Size1151
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer