A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589072



Internal ID6629363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229293268..229326150hg38UCSC Ensembl
chr1:229429015..229461897hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3832883
hg1932883
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10315224
SamplesHG01613
Known GenesCCSAP, RAB4A, SPHAR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589072
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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