A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12363367



Internal ID3467563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:55846680..55854553hg38UCSC Ensembl
Innerchr6:55846730..55854503hg38UCSC Ensembl
Outerchr6:55846630..55854603hg38UCSC Ensembl
chr6:55711478..55719351hg19UCSC Ensembl
Innerchr6:55711528..55719301hg19UCSC Ensembl
Outerchr6:55711428..55719401hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg387874
hg197874
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609078
Supporting Variants
SamplesHG03085
Known GenesBMP5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12363367
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