A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12449917



Internal ID2411695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:80637662..80667173hg38UCSC Ensembl
Innerchr6:80637662..80667173hg38UCSC Ensembl
Outerchr6:80637162..80667673hg38UCSC Ensembl
chr6:81347379..81376890hg19UCSC Ensembl
Innerchr6:81347379..81376890hg19UCSC Ensembl
Outerchr6:81346879..81377390hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3829512
hg1929512
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609717
Supporting Variants
SamplesHG02136
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12449917
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