A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657566



Internal ID9576985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44717861..44718346hg38UCSC Ensembl
chr22:45113741..45114226hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38486
hg19486
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5966717, essv5507555, essv6559003, essv5716339, essv6003424, essv6017315, essv5690269, essv6336104, essv5493435, essv6447607, essv5642575, essv5835468, essv6485277, essv6048437, essv5663903, essv5576761, essv6360908, essv6077025, essv5612780, essv5964861, essv5869839, essv5739129, essv5794653, essv6232922, essv6113030, essv5949677, essv6299979, essv5636277, essv6097456, essv5912419, essv5410600, essv5533958, essv5945279, essv5616108, essv5596206, essv6254998
SamplesNA12827, NA18964, NA07037, NA20785, NA20516, NA11920, NA18612, HG00245, NA19788, NA19920, NA18541, NA18546, NA20805, NA18965, NA18873, NA18596, NA19067, NA12282, NA18635, NA19068, NA20807, NA12830, NA18539, NA19676, NA18498, NA18986, NA19005, NA18599, NA18577, NA20507, NA12842, HG00324, NA12717, NA18574, NA19473, NA18553
Known GenesPRR5, PRR5-ARHGAP8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657566
Frequency
Sample Size1151
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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