A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10470883



Internal ID3400312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:39975889..40026498hg38UCSC Ensembl
Innerchr2:39976389..40025998hg38UCSC Ensembl
Outerchr2:39974889..40027498hg38UCSC Ensembl
chr2:40203029..40253638hg19UCSC Ensembl
Innerchr2:40203529..40253138hg19UCSC Ensembl
Outerchr2:40202029..40254638hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3850610
hg1950610
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590444
Supporting Variants
SamplesHG03048
Known GenesSLC8A1-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10470883
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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