A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608922



Internal ID6995846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:48699789..48722220hg38UCSC Ensembl
chr6:48667531..48689857hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3822432
hg1922327
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12344005, essv12344004, essv12344002, essv12344003
SamplesNA20342, HG02497, HG03046, HG02095
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608922
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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