A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5434897



Internal ID8412300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44555589..44556676hg38UCSC Ensembl
chr1:45021261..45022348hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg381088
hg191088
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2669009
Supporting Variants
SamplesNA18942
Known GenesRNF220
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5434897
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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