A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10536665



Internal ID538481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70071531..70077913hg38UCSC Ensembl
Innerchr2:70071582..70077862hg38UCSC Ensembl
Outerchr2:70071480..70077964hg38UCSC Ensembl
chr2:70298663..70305045hg19UCSC Ensembl
Innerchr2:70298714..70304994hg19UCSC Ensembl
Outerchr2:70298612..70305096hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg386383
hg196383
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591199
Supporting Variants
SamplesNA20765
Known GenesPCBP1-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10536665
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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