A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14898499



Internal ID4900315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:110983301..111125286hg38UCSC Ensembl
chr13:111635648..111777633hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38141986
hg19141986
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633556
Supporting Variants
SamplesHG03060
Known GenesARHGEF7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14898499
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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