A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14898508



Internal ID4900324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:110983375..111121932hg38UCSC Ensembl
Innerchr13:110983525..111121782hg38UCSC Ensembl
Outerchr13:110983225..111122082hg38UCSC Ensembl
chr13:111635722..111774279hg19UCSC Ensembl
Innerchr13:111635872..111774129hg19UCSC Ensembl
Outerchr13:111635572..111774429hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38138558
hg19138558
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633557
Supporting Variants
SamplesNA20533
Known GenesARHGEF7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14898508
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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