A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5457579



Internal ID8434984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:24894221..24895072hg38UCSC Ensembl
Outerchr2:24894184..24895122hg38UCSC Ensembl
Innerchr2:25117090..25117941hg19UCSC Ensembl
Outerchr2:25117053..25117991hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38939
hg19939
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2673418
Supporting Variants
SamplesNA19055
Known GenesADCY3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5457579
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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