A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10598690



Internal ID600506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:105045653..105049184hg38UCSC Ensembl
Innerchr2:105045653..105049184hg38UCSC Ensembl
Outerchr2:105045337..105049422hg38UCSC Ensembl
chr2:105662111..105665642hg19UCSC Ensembl
Innerchr2:105662111..105665642hg19UCSC Ensembl
Outerchr2:105661795..105665880hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg383532
hg193532
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591824
Supporting Variants
SamplesHG01510
Known GenesMRPS9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10598690
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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