A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14046187



Internal ID1182786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:19519799..19520649hg38UCSC Ensembl
Innerchr11:19519799..19520649hg38UCSC Ensembl
Outerchr11:19519531..19520955hg38UCSC Ensembl
chr11:19541346..19542196hg19UCSC Ensembl
Innerchr11:19541346..19542196hg19UCSC Ensembl
Outerchr11:19541078..19542502hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg38851
hg19851
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625537
Supporting Variants
SamplesHG01060
Known GenesNAV2, NAV2-AS4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14046187
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