A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14116197



Internal ID4118013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:43888053..43888361hg38UCSC Ensembl
Innerchr11:43888053..43888361hg38UCSC Ensembl
Outerchr11:43888053..43888361hg38UCSC Ensembl
chr11:43909603..43909911hg19UCSC Ensembl
Innerchr11:43909603..43909911hg19UCSC Ensembl
Outerchr11:43909603..43909911hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38309
hg19309
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626155
Supporting Variants
SamplesNA19777
Known GenesALKBH3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14116197
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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