A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10711140



Internal ID2387253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:151070355..151071600hg38UCSC Ensembl
Innerchr2:151070358..151071598hg38UCSC Ensembl
Outerchr2:151070353..151071603hg38UCSC Ensembl
chr2:151926869..151928114hg19UCSC Ensembl
Innerchr2:151926872..151928112hg19UCSC Ensembl
Outerchr2:151926867..151928117hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg381246
hg191246
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592911
Supporting Variants
SamplesHG02116
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10711140
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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