A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11028208



Internal ID6247972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:63546941..63582416hg38UCSC Ensembl
chr3:63532617..63568092hg19UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg3835476
hg1935476
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596393
Supporting Variants
SamplesNA19773
Known GenesSYNPR, SYNPR-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11028208
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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