A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10536667



Internal ID538483
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591200
Supporting Variants
SamplesHG00327
Known GenesPCBP1-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10536667
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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