A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12330618



Internal ID663863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:43662435..43663299hg38UCSC Ensembl
Innerchr6:43662485..43663249hg38UCSC Ensembl
Outerchr6:43662329..43663405hg38UCSC Ensembl
chr6:43630172..43631036hg19UCSC Ensembl
Innerchr6:43630222..43630986hg19UCSC Ensembl
Outerchr6:43630066..43631142hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38865
hg19865
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608817
Supporting Variants
SamplesHG00309
Known GenesRSPH9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12330618
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