A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14212060



Internal ID5115719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:73087487..73090914hg38UCSC Ensembl
Innerchr11:73087531..73090870hg38UCSC Ensembl
Outerchr11:73087443..73090958hg38UCSC Ensembl
chr11:72798532..72801959hg19UCSC Ensembl
Innerchr11:72798576..72801915hg19UCSC Ensembl
Outerchr11:72798488..72802003hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg383428
hg193428
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626808
Supporting Variants
SamplesNA18561
Known GenesFCHSD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14212060
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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