A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670723



Internal ID9590142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:9232374..9233836hg38UCSC Ensembl
chr17:9135691..9137153hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg381463
hg191463
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6354869, essv6457354, essv5559795, essv5769363, essv5586721
SamplesNA19819, NA18501, NA19701, NA20344, NA19719
Known GenesNTN1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670723
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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