A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588736



Internal ID6976152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:211716763..211734807hg38UCSC Ensembl
chr1:211890105..211908149hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg3818045
hg1918045
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10285428
SamplesHG00537
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588736
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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