A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14174772



Internal ID4176588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:59773830..59775533hg38UCSC Ensembl
Innerchr11:59773859..59775504hg38UCSC Ensembl
Outerchr11:59773801..59775562hg38UCSC Ensembl
chr11:59541303..59543006hg19UCSC Ensembl
Innerchr11:59541332..59542977hg19UCSC Ensembl
Outerchr11:59541274..59543035hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg381704
hg191704
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626541
Supporting Variants
SamplesHG02890
Known GenesSTX3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14174772
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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