A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6511944



Internal ID9489347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:28901069..28901391hg38UCSC Ensembl
chr1:29227581..29227903hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2672867
Supporting Variants
SamplesHG01197
Known GenesEPB41
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6511944
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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