A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12469603



Internal ID488461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:94677185..94878840hg38UCSC Ensembl
Innerchr6:94677685..94878340hg38UCSC Ensembl
Outerchr6:94676185..94879840hg38UCSC Ensembl
chr6:95386903..95588558hg19UCSC Ensembl
Innerchr6:95387403..95588058hg19UCSC Ensembl
Outerchr6:95385903..95589558hg19UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg38201656
hg19201656
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610027
Supporting Variants
SamplesHG00171
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12469603
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