A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12556470



Internal ID2558286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:133260922..133269959hg38UCSC Ensembl
Innerchr6:133260922..133269959hg38UCSC Ensembl
Outerchr6:133260750..133270137hg38UCSC Ensembl
chr6:133582060..133591097hg19UCSC Ensembl
Innerchr6:133582060..133591097hg19UCSC Ensembl
Outerchr6:133581888..133591275hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg389038
hg199038
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610852
Supporting Variants
SamplesNA18571
Known GenesEYA4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12556470
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