A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665922



Internal ID2899009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:88792134..88794097hg38UCSC Ensembl
chr1:89257817..89259780hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg381964
hg191964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6157659
SamplesHG00740
Known GenesPKN2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665922
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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