A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586948



Internal ID6974376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:100636255..100641054hg38UCSC Ensembl
chr1:101101811..101106610hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg384800
hg194800
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10032399, essv10032400
SamplesNA20804, HG01111
Known GenesLOC100128787
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586948
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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