A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12512952



Internal ID6671077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:116965873..116967773hg38UCSC Ensembl
Innerchr6:116965873..116967773hg38UCSC Ensembl
Outerchr6:116965834..116967833hg38UCSC Ensembl
chr6:117287036..117288936hg19UCSC Ensembl
Innerchr6:117287036..117288936hg19UCSC Ensembl
Outerchr6:117286997..117288996hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg381901
hg191901
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610482
Supporting Variants
SamplesNA20810
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12512952
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