A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5446648



Internal ID8424051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:215037824..215039758hg38UCSC Ensembl
chr2:215902548..215904482hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg381935
hg191935
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2675366
Supporting Variants
SamplesNA18628
Known GenesABCA12
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5446648
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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