A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12448733



Internal ID1082224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:79846060..79861132hg38UCSC Ensembl
Innerchr6:79846560..79860632hg38UCSC Ensembl
Outerchr6:79845060..79862132hg38UCSC Ensembl
chr6:80555777..80570849hg19UCSC Ensembl
Innerchr6:80556277..80570349hg19UCSC Ensembl
Outerchr6:80554777..80571849hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3815073
hg1915073
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609703
Supporting Variants
SamplesHG00705
Known GenesC6orf7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12448733
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