A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662822



Internal ID9928927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:4136672..4140603hg38UCSC Ensembl
chr2:4184262..4188193hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg383932
hg193932
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5806931, essv5706009
SamplesNA19469, NA19470
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662822
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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