A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663784



Internal ID9929889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44713888..44719054hg38UCSC Ensembl
chr17:42791256..42796422hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg385167
hg195167
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5886294, essv5986794, essv5821364, essv5484298, essv6065871
SamplesNA20508, NA20541, HG00176, NA12718, HG00310
Known GenesDBF4B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663784
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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