A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv374e214



Internal ID20121797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:111116844..111123840hg38UCSC Ensembl
chr13:111769191..111776187hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg386997
hg196997
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3633560, esv3633559
SamplesHG02571
Known GenesARHGEF7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv374e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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