A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663819



Internal ID9583238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40086685..40087968hg38UCSC Ensembl
chr1:40552357..40553640hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg381284
hg191284
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5718911, essv6425724, essv6143208, essv5784184, essv6096710, essv6190470, essv5549791, essv6275316, essv5690867, essv5544409, essv5509095, essv6330656, essv6367215, essv5966098, essv5684203, essv6352924, essv5474272, essv5903961
SamplesNA18595, NA18530, HG00683, HG00557, NA19084, HG00699, HG00556, NA18635, NA19066, NA18986, NA19002, NA18614, NA19064, NA18944, HG00422, HG01462, HG00704, NA19065
Known GenesPPT1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663819
Frequency
Sample Size1151
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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