A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11125372



Internal ID1127188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:123813223..123952334hg38UCSC Ensembl
chr3:123532070..123671181hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38139112
hg19139112
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597633
Supporting Variants
SamplesNA20585
Known GenesCCDC14, MYLK
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11125372
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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