A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6173983



Internal ID9150947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23972827..23992629hg38UCSC Ensembl
Outerchr22:23972456..23992998hg38UCSC Ensembl
Innerchr22:24315016..24334822hg19UCSC Ensembl
Outerchr22:24314645..24335192hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3820543
hg1920548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2667759
Supporting Variants
SamplesHG01254
Known GenesDDT, DDTL, GSTT2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6173983
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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