A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591072



Internal ID6978400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:64115004..64288381hg38UCSC Ensembl
Innerchr2:64115154..64288231hg38UCSC Ensembl
Outerchr2:64114854..64288531hg38UCSC Ensembl
chr2:64342138..64515515hg19UCSC Ensembl
Innerchr2:64342288..64515365hg19UCSC Ensembl
Outerchr2:64341988..64515665hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg38173378
hg19173378
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv705e214
Supporting Variantsessv10524815, essv10524819, essv10524820, essv10524818, essv10524822, essv10524817, essv10524823, essv10524816, essv10524821
SamplesNA18502, HG03168, HG00610, NA18498, NA19917, HG00266, HG03123, HG03451, HG03391
Known GenesLINC00309, PELI1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591072
Frequency
Sample Size2504
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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