A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12546183



Internal ID3131079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:129609533..129609998hg38UCSC Ensembl
Innerchr6:129609533..129609998hg38UCSC Ensembl
Outerchr6:129609291..129610321hg38UCSC Ensembl
chr6:129930678..129931143hg19UCSC Ensembl
Innerchr6:129930678..129931143hg19UCSC Ensembl
Outerchr6:129930436..129931466hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg38466
hg19466
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610773
Supporting Variants
SamplesHG02759
Known GenesARHGAP18
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12546183
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