A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12535787



Internal ID3127421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:124829775..124845185hg38UCSC Ensembl
Innerchr6:124829775..124845185hg38UCSC Ensembl
Outerchr6:124829275..124845685hg38UCSC Ensembl
chr6:125150921..125166331hg19UCSC Ensembl
Innerchr6:125150921..125166331hg19UCSC Ensembl
Outerchr6:125150421..125166831hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3815411
hg1915411
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610673
Supporting Variants
SamplesHG02757
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12535787
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