A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591200



Internal ID6631484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70081327..70082633hg38UCSC Ensembl
Innerchr2:70081327..70082633hg38UCSC Ensembl
Outerchr2:70081126..70082848hg38UCSC Ensembl
chr2:70308459..70309765hg19UCSC Ensembl
Innerchr2:70308459..70309765hg19UCSC Ensembl
Outerchr2:70308258..70309980hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg381307
hg191307
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10536669, essv10536667, essv10536666, essv10536668
SamplesNA19072, HG00346, HG00102, HG00327
Known GenesPCBP1-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591200
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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