A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1177e199



Internal ID22758950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:642510..643682hg38UCSC Ensembl
chr7:682147..683319hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg381173
hg191173
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2658063, esv2672322, esv2675344
SamplesNA19466, NA19359, NA12751, NA19190, NA07346, NA19131, NA11918, NA19457, NA19371, NA19239, NA19200, NA18907, NA19469, NA19160, NA19108, NA19240, NA19380, NA18501, NA19713, NA19093, HG00372, NA19129, NA18522
Known GenesPRKAR1B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv1177e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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