A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592478



Internal ID6979805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:131378107..131433232hg38UCSC Ensembl
chr2:132135680..132190805hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3855126
hg1955126
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10674133, essv10674134, essv10674135, essv10674136, essv10674137, essv10674131, essv10674132
SamplesHG03455, NA19404, HG03428, NA18976, HG03854, HG00565, HG00728
Known GenesLINC01120
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592478
Frequency
Sample Size2504
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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