A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14033456



Internal ID4035272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:13962063..14027140hg38UCSC Ensembl
Innerchr11:13962070..14027133hg38UCSC Ensembl
Outerchr11:13962056..14027147hg38UCSC Ensembl
chr11:13983610..14048687hg19UCSC Ensembl
Innerchr11:13983617..14048680hg19UCSC Ensembl
Outerchr11:13983603..14048694hg19UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg3865078
hg1965078
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625418
Supporting Variants
SamplesHG00657
Known GenesSPON1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14033456
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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