A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14214237



Internal ID924110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:76749141..76750442hg38UCSC Ensembl
Innerchr11:76749153..76750430hg38UCSC Ensembl
Outerchr11:76749129..76750454hg38UCSC Ensembl
chr11:76460185..76461486hg19UCSC Ensembl
Innerchr11:76460197..76461474hg19UCSC Ensembl
Outerchr11:76460173..76461498hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg381302
hg191302
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626876
Supporting Variants
SamplesHG00551
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14214237
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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