A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593673



Internal ID6633952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:186543547..186598121hg38UCSC Ensembl
chr2:187408274..187462848hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg3854575
hg1954575
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10791112
SamplesNA11992
Known GenesITGAV
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593673
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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