A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10489593



Internal ID2813771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:46911358..46916995hg38UCSC Ensembl
Innerchr2:46911358..46916995hg38UCSC Ensembl
Outerchr2:46910858..46917495hg38UCSC Ensembl
chr2:47138497..47144134hg19UCSC Ensembl
Innerchr2:47138497..47144134hg19UCSC Ensembl
Outerchr2:47137997..47144634hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg385638
hg195638
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590617
Supporting Variants
SamplesHG02484
Known GenesMCFD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10489593
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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