A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14210473



Internal ID4212289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:71526772..71565036hg38UCSC Ensembl
Innerchr11:71526922..71564886hg38UCSC Ensembl
Outerchr11:71526622..71565186hg38UCSC Ensembl
chr11:71237818..71276082hg19UCSC Ensembl
Innerchr11:71237968..71275932hg19UCSC Ensembl
Outerchr11:71237668..71276232hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3838265
hg1938265
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626781
Supporting Variants
SamplesHG02084
Known GenesKRTAP5-7, KRTAP5-8, KRTAP5-9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14210473
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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