A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669296



Internal ID9935401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:231184145..231186249hg38UCSC Ensembl
chr1:231319891..231321995hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg382105
hg192105
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5761756, essv6460162, essv5523511, essv5728965, essv5438802, essv5741338, essv6106297, essv6046043, essv6382111, essv5834117, essv5968378, essv6029738, essv5798699
SamplesNA18508, NA18870, HG01250, NA18923, NA19916, NA19138, NA19383, NA19901, NA19445, NA18907, HG01390, NA18853, NA18858
Known GenesLOC149373, TRIM67
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669296
Frequency
Sample Size1151
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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