A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6019654



Internal ID8997057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:17671228..17677360hg38UCSC Ensembl
chr1:17997723..18003855hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg386133
hg196133
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2659798
Supporting Variants
SamplesHG01055
Known GenesARHGEF10L
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6019654
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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