A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670230



Internal ID9936335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53533695..53536976hg38UCSC Ensembl
chr1:53999368..54002649hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg383282
hg193282
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6305994, essv5997555, essv5628075, essv6427560
SamplesNA19130, NA18853, NA19439, NA19312
Known GenesGLIS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670230
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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