A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590619



Internal ID6977948
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10489596, essv10489598, essv10489597
SamplesNA18539, NA18614, HG00584
Known GenesMCFD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590619
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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