A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9945414



Internal ID6570707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:59710823..59735813hg38UCSC Ensembl
chr1:60176495..60201485hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg3824991
hg1924991
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586192
Supporting Variants
SamplesHG03681
Known GenesFGGY, MIR4711
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9945414
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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