A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14031732



Internal ID4033548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:12170910..12185359hg38UCSC Ensembl
Innerchr11:12171060..12185209hg38UCSC Ensembl
Outerchr11:12170760..12185509hg38UCSC Ensembl
chr11:12192457..12206906hg19UCSC Ensembl
Innerchr11:12192607..12206756hg19UCSC Ensembl
Outerchr11:12192307..12207056hg19UCSC Ensembl
Cytoband11p15.3
Allele length
AssemblyAllele length
hg3814450
hg1914450
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625389
Supporting Variants
SamplesNA19701
Known GenesMICAL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14031732
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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