A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6046247



Internal ID9023650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:150630515..150647969hg38UCSC Ensembl
Outerchr4:150630478..150648019hg38UCSC Ensembl
Innerchr4:151551667..151569121hg19UCSC Ensembl
Outerchr4:151551630..151569171hg19UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg3817542
hg1917542
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2667539
Supporting Variants
SamplesHG00250
Known GenesLRBA
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6046247
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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