A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675525



Internal ID9941630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:21446075..21465749hg38UCSC Ensembl
chr4:21447698..21467372hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg3819675
hg1919675
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5585129, essv5751526
SamplesNA18908, NA19439
Known GenesKCNIP4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675525
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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