A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5811795



Internal ID9795707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:53671695..53671893hg38UCSC Ensembl
chr2:53898832..53899030hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38199
hg19199
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2661223
Supporting Variants
SamplesNA19818
Known GenesASB3, GPR75-ASB3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5811795
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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