A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671463



Internal ID9937568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:5750020..5751598hg38UCSC Ensembl
chr9:5750020..5751598hg19UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg381579
hg191579
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1320e199
Supporting Variantsessv6407310, essv6284723, essv5545507, essv6143476, essv6202938
SamplesNA19920, NA19471, NA19982, NA19434, NA19444
Known GenesKIAA1432
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671463
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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