A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14302142



Internal ID4303958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:124662251..124669278hg38UCSC Ensembl
Innerchr11:124662251..124669278hg38UCSC Ensembl
Outerchr11:124661968..124669536hg38UCSC Ensembl
chr11:124532147..124539174hg19UCSC Ensembl
Innerchr11:124532147..124539174hg19UCSC Ensembl
Outerchr11:124531864..124539432hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg387028
hg197028
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627985
Supporting Variants
SamplesNA19467
Known GenesSIAE
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14302142
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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