A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14214075



Internal ID6616262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:75888624..75928589hg38UCSC Ensembl
Innerchr11:75888624..75928589hg38UCSC Ensembl
Outerchr11:75888124..75929089hg38UCSC Ensembl
chr11:75599668..75639633hg19UCSC Ensembl
Innerchr11:75599668..75639633hg19UCSC Ensembl
Outerchr11:75599168..75640133hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg3839966
hg1939966
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626862
Supporting Variants
SamplesNA20783
Known GenesUVRAG
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14214075
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer