A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668880



Internal ID9934985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:83012803..83018574hg38UCSC Ensembl
chr17:80970679..80976450hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg385772
hg195772
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6208587, essv5575475
SamplesHG00699, NA18558
Known GenesB3GNTL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668880
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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