A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663134



Internal ID9582553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:85445302..85449719hg38UCSC Ensembl
chr1:85910985..85915402hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg384418
hg194418
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6386496, essv6300852, essv6223706, essv6259183
SamplesNA19054, NA18959, NA18620, NA19058
Known GenesDDAH1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663134
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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