A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662269



Internal ID9928374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:227589041..227591339hg38UCSC Ensembl
chr1:227776742..227779040hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg382299
hg192299
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6504651, essv5621171, essv6277888, essv5466077, essv5484698, essv5739145, essv6237698, essv5968289, essv5451754, essv5548710, essv6000674, essv5449411
SamplesHG00142, HG01461, NA20586, HG01168, HG01072, NA19445, NA20536, NA20815, HG01375, NA20504, HG00554, HG01061
Known GenesZNF678
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662269
Frequency
Sample Size1151
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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