A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593486



Internal ID6980810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:178249650..178260260hg38UCSC Ensembl
chr2:179114377..179124987hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3810611
hg1910611
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10779057, essv10779058
SamplesNA18757, HG00614
Known GenesOSBPL6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593486
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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