A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678821



Internal ID9944926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23972427..23993328hg38UCSC Ensembl
Outerchr22:23972056..23993698hg38UCSC Ensembl
Innerchr22:24314616..24335522hg19UCSC Ensembl
Outerchr22:24314245..24335892hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3821643
hg1921648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv826e199
Supporting Variantsessv6054617, essv6294266, essv5619965, essv6548474, essv5433535, essv5802097, essv6116667, essv6191518, essv6261020, essv6057858, essv6462136, essv6002275, essv6341126, essv6012253, essv5560701, essv6179780, essv5542614, essv6112931, essv6018244, essv5905207, essv5696861, essv5468351, essv6506016, essv5800128, essv5842254, essv5565426
SamplesNA19648, NA19777, NA19728, NA19723, NA19782, NA19681, NA19651, NA19725, NA19657, NA19717, NA19663, NA19788, NA19654, NA19655, NA19761, NA19682, NA19729, NA19652, NA19747, NA19732, NA19679, NA19785, NA19716, NA19770, NA19780, NA19676
Known GenesDDT, DDTL, GSTT2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678821
Frequency
Sample Size1151
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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