A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12452031



Internal ID2400293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:81672331..81674235hg38UCSC Ensembl
Innerchr6:81672381..81674185hg38UCSC Ensembl
Outerchr6:81672247..81674319hg38UCSC Ensembl
chr6:82382048..82383952hg19UCSC Ensembl
Innerchr6:82382098..82383902hg19UCSC Ensembl
Outerchr6:82381964..82384036hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg381905
hg191905
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609753
Supporting Variants
SamplesHG02130
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12452031
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