A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12190061



Internal ID4530099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:12968996..12992652hg38UCSC Ensembl
Innerchr6:12968996..12992652hg38UCSC Ensembl
Outerchr6:12968496..12993152hg38UCSC Ensembl
chr6:12969228..12992884hg19UCSC Ensembl
Innerchr6:12969228..12992884hg19UCSC Ensembl
Outerchr6:12968728..12993384hg19UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg3823657
hg1923657
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608120
Supporting Variants
SamplesHG04025
Known GenesPHACTR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12190061
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