A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6010106



Internal ID9189068
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
SamplesHG01462
Known GenesASB3, GPR75-ASB3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6010106
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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