A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15680910



Internal ID5682726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45416129..45426829hg38UCSC Ensembl
Innerchr17:45416179..45426779hg38UCSC Ensembl
Outerchr17:45416079..45426879hg38UCSC Ensembl
chr17:43493495..43504195hg19UCSC Ensembl
Innerchr17:43493545..43504145hg19UCSC Ensembl
Outerchr17:43493445..43504245hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3810701
hg1910701
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640663
Supporting Variants
SamplesHG03722
Known GenesARHGAP27
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15680910
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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