A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14266243



Internal ID4894381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:104886983..104911145hg38UCSC Ensembl
Innerchr11:104886992..104911136hg38UCSC Ensembl
Outerchr11:104886974..104911154hg38UCSC Ensembl
chr11:104757710..104781872hg19UCSC Ensembl
Innerchr11:104757719..104781863hg19UCSC Ensembl
Outerchr11:104757701..104781881hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg3824163
hg1924163
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627599
Supporting Variants
SamplesNA12414
Known GenesCASP12, LOC643733
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14266243
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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