A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12576271



Internal ID1346889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:145103171..145108646hg38UCSC Ensembl
Innerchr6:145103171..145108646hg38UCSC Ensembl
Outerchr6:145103039..145108684hg38UCSC Ensembl
chr6:145424307..145429782hg19UCSC Ensembl
Innerchr6:145424307..145429782hg19UCSC Ensembl
Outerchr6:145424175..145429820hg19UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg385476
hg195476
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611127
Supporting Variants
SamplesHG01187
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12576271
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