A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14116446



Internal ID4118262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:44208142..44214068hg38UCSC Ensembl
Innerchr11:44208186..44214024hg38UCSC Ensembl
Outerchr11:44208098..44214112hg38UCSC Ensembl
chr11:44229692..44235618hg19UCSC Ensembl
Innerchr11:44229736..44235574hg19UCSC Ensembl
Outerchr11:44229648..44235662hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg385927
hg195927
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626159
Supporting Variants
SamplesHG02679
Known GenesEXT2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14116446
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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