A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10489598



Internal ID5199333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:46925425..46931763hg38UCSC Ensembl
Innerchr2:46925425..46931763hg38UCSC Ensembl
Outerchr2:46925212..46931986hg38UCSC Ensembl
chr2:47152564..47158902hg19UCSC Ensembl
Innerchr2:47152564..47158902hg19UCSC Ensembl
Outerchr2:47152351..47159125hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg386339
hg196339
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590619
Supporting Variants
SamplesNA18614
Known GenesMCFD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10489598
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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