A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10529248



Internal ID3430620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:65930460..65933288hg38UCSC Ensembl
Innerchr2:65930460..65933288hg38UCSC Ensembl
Outerchr2:65930209..65933575hg38UCSC Ensembl
chr2:66157594..66160422hg19UCSC Ensembl
Innerchr2:66157594..66160422hg19UCSC Ensembl
Outerchr2:66157343..66160709hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg382829
hg192829
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591107
Supporting Variants
SamplesHG03064
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10529248
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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