A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589514



Internal ID6629803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247297392..247354590hg38UCSC Ensembl
chr1:247460694..247517892hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3857199
hg1957199
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10373665
SamplesNA20859
Known GenesZNF496
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589514
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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