A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14241809



Internal ID4243625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:94177630..94178176hg38UCSC Ensembl
Innerchr11:94177630..94178176hg38UCSC Ensembl
Outerchr11:94177370..94178431hg38UCSC Ensembl
chr11:93910796..93911342hg19UCSC Ensembl
Innerchr11:93910796..93911342hg19UCSC Ensembl
Outerchr11:93910536..93911597hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg38547
hg19547
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627314
Supporting Variants
SamplesNA20754
Known GenesPANX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14241809
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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