A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5646968



Internal ID8624371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233463358..233463698hg38UCSC Ensembl
chr2:234372004..234372344hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38341
hg19341
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2673713
Supporting Variants
SamplesNA19700
Known GenesDGKD
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5646968
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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