A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10404373



Internal ID406189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:9649326..9672251hg38UCSC Ensembl
Innerchr2:9649357..9672220hg38UCSC Ensembl
Outerchr2:9649295..9672282hg38UCSC Ensembl
chr2:9789455..9812380hg19UCSC Ensembl
Innerchr2:9789486..9812349hg19UCSC Ensembl
Outerchr2:9789424..9812411hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3822926
hg1922926
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589778
Supporting Variants
SamplesHG03872
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10404373
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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