A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591205



Internal ID6978533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70264550..70269576hg38UCSC Ensembl
Innerchr2:70264600..70269526hg38UCSC Ensembl
Outerchr2:70264500..70269626hg38UCSC Ensembl
chr2:70491682..70496708hg19UCSC Ensembl
Innerchr2:70491732..70496658hg19UCSC Ensembl
Outerchr2:70491632..70496758hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg385027
hg195027
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10536675, essv10536677, essv10536678, essv10536676
SamplesHG00364, HG00285, HG00310, HG00274
Known GenesPCYOX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591205
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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