A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664536



Internal ID9583955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53901974..53904057hg38UCSC Ensembl
chr1:54367647..54369730hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg382084
hg192084
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5944131, essv6130888, essv5495885, essv5977344, essv5557112, essv6517131, essv6234676, essv5857546, essv5729291, essv5450115
SamplesHG00641, NA18916, NA19118, NA18856, NA19257, NA19834, NA18517, NA19467, NA18522, NA19431
Known GenesDIO1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664536
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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