A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669053



Internal ID9588472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:9862072..9864339hg38UCSC Ensembl
chr4:9863696..9865963hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg382268
hg192268
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6322217, essv5694811, essv6175851, essv5533154, essv6502922, essv5409337
SamplesHG01051, NA19467, NA19239, NA19247, NA18909, NA19916
Known GenesSLC2A9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669053
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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