A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12559789



Internal ID2561605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:135519297..135721567hg38UCSC Ensembl
Innerchr6:135519310..135721555hg38UCSC Ensembl
Outerchr6:135519285..135721580hg38UCSC Ensembl
chr6:135840435..136042705hg19UCSC Ensembl
Innerchr6:135840448..136042693hg19UCSC Ensembl
Outerchr6:135840423..136042718hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38202271
hg19202271
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610898
Supporting Variants
SamplesHG03694
Known GenesLINC00271
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12559789
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