A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588310



Internal ID6975726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:190778197..190804396hg38UCSC Ensembl
chr1:190747327..190773526hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3826200
hg1926200
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10232203
SamplesNA18991
Known GenesLOC440704
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588310
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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