A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14898516



Internal ID4900332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:111116946..111122745hg38UCSC Ensembl
chr13:111769293..111775092hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg385800
hg195800
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633561
Supporting Variants
SamplesHG03060
Known GenesARHGEF7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14898516
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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