A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14898514



Internal ID4900330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:111116844..111123840hg38UCSC Ensembl
Innerchr13:111116856..111123829hg38UCSC Ensembl
Outerchr13:111116833..111123852hg38UCSC Ensembl
chr13:111769191..111776187hg19UCSC Ensembl
Innerchr13:111769203..111776176hg19UCSC Ensembl
Outerchr13:111769180..111776199hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg386997
hg196997
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633559
Supporting Variants
SamplesHG02571
Known GenesARHGEF7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14898514
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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