A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660490



Internal ID9926595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:27676160..27676901hg38UCSC Ensembl
Outerchr2:27676123..27676951hg38UCSC Ensembl
Innerchr2:27899027..27899768hg19UCSC Ensembl
Outerchr2:27898990..27899818hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38829
hg19829
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5821161, essv6313568
SamplesNA19457, NA19782
Known GenesSLC4A1AP
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660490
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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