A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662228



Internal ID9928333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:27416037..27423900hg38UCSC Ensembl
chr17:25743063..25750926hg19UCSC Ensembl
Cytoband17q11.1
Allele length
AssemblyAllele length
hg387864
hg197864
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6514793, essv5517431, essv6445690, essv6089941, essv5673871, essv5944537, essv5604952, essv6000751
SamplesNA19374, NA19396, NA19373, HG01492, NA18856, NA19439, NA19248, NA18505
Known GenesTBC1D3P5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662228
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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