A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5970540



Internal ID8947943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:216058135..216058664hg38UCSC Ensembl
chr1:216231477..216232006hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38530
hg19530
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2669208
Supporting Variants
SamplesNA18487
Known GenesUSH2A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5970540
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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