A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6086949



Internal ID9064352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45418833..45419875hg38UCSC Ensembl
Outerchr17:45418796..45419925hg38UCSC Ensembl
Innerchr17:43496199..43497241hg19UCSC Ensembl
Outerchr17:43496162..43497291hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg381130
hg191130
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2676260
Supporting Variants
SamplesNA12749
Known GenesARHGAP27
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6086949
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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