A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10493137



Internal ID494953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:47894805..47901262hg38UCSC Ensembl
Innerchr2:47894805..47901262hg38UCSC Ensembl
Outerchr2:47894709..47901384hg38UCSC Ensembl
chr2:48121944..48128401hg19UCSC Ensembl
Innerchr2:48121944..48128401hg19UCSC Ensembl
Outerchr2:48121848..48128523hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg386458
hg196458
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590641
Supporting Variants
SamplesHG00421
Known GenesFBXO11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10493137
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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