A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12593110



Internal ID2594926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:154386382..154404071hg38UCSC Ensembl
Innerchr6:154386882..154403571hg38UCSC Ensembl
Outerchr6:154385382..154405071hg38UCSC Ensembl
chr6:154707516..154725205hg19UCSC Ensembl
Innerchr6:154708016..154724705hg19UCSC Ensembl
Outerchr6:154706516..154726205hg19UCSC Ensembl
Cytoband6q25.2
Allele length
AssemblyAllele length
hg3817690
hg1917690
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611319
Supporting Variants
SamplesNA19171
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12593110
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