A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646422



Internal ID6686480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:14095581..14339672hg38UCSC Ensembl
chr21:15467902..15711993hg19UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38244092
hg19244092
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16263837
SamplesHG02136
Known GenesABCC13, LIPI, RBM11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646422
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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