A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590441



Internal ID6630727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:39864446..40005186hg38UCSC Ensembl
Innerchr2:39864478..40005155hg38UCSC Ensembl
Outerchr2:39864415..40005218hg38UCSC Ensembl
chr2:40091586..40232326hg19UCSC Ensembl
Innerchr2:40091618..40232295hg19UCSC Ensembl
Outerchr2:40091555..40232358hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg38140741
hg19140741
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10470876
SamplesNA12400
Known GenesSLC8A1-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590441
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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