A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600469



Internal ID6640732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:48863563..48888613hg38UCSC Ensembl
chr4:48865580..48890630hg19UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg3825051
hg1925051
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11429660
SamplesNA19654
Known GenesOCIAD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600469
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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