A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15108803



Internal ID6056344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:101022994..101033059hg38UCSC Ensembl
chr14:101489331..101499396hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg3810066
hg1910066
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635523
Supporting Variants
SamplesNA19451
Known GenesMIR1193, MIR1197, MIR299, MIR323A, MIR329-1, MIR329-2, MIR380, MIR411, MIR494, MIR543, MIR758
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15108803
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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