A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585668



Internal ID6973188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:32109816..32115936hg38UCSC Ensembl
chr1:32575417..32581537hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg386121
hg196121
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9896364, essv9896359, essv9896366, essv9896361, essv9896358, essv9896355, essv9896354, essv9896362, essv9896360, essv9896363, essv9896357, essv9896356, essv9896365
SamplesNA20588, HG01462, HG01961, NA12282, HG01605, NA11831, NA12489, NA19658, NA20525, HG02238, HG01251, HG01672, HG00255
Known GenesKPNA6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585668
Frequency
Sample Size2504
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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