A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663893



Internal ID9583312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:56743073..56744690hg38UCSC Ensembl
chr1:57208746..57210363hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg381618
hg191618
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6548252, essv5840990, essv6243064, essv5780631, essv5436822, essv5645334, essv6022555, essv5768143, essv5564647, essv5742430, essv5407840
SamplesHG00654, NA18539, HG00464, HG00560, NA18538, HG00428, HG00584, NA18543, HG00595, HG00472, NA19063
Known GenesC1orf168
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663893
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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