A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14028067



Internal ID4029883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:10435119..10512909hg38UCSC Ensembl
chr11:10456666..10534456hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3877791
hg1977791
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625358
Supporting Variants
SamplesHG03875
Known GenesAMPD3, MIR4485, MTRNR2L8, RNF141
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14028067
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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