A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12524385



Internal ID998576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:120660674..120688773hg38UCSC Ensembl
Innerchr6:120660674..120688773hg38UCSC Ensembl
Outerchr6:120660174..120689273hg38UCSC Ensembl
chr6:120981820..121009919hg19UCSC Ensembl
Innerchr6:120981820..121009919hg19UCSC Ensembl
Outerchr6:120981320..121010419hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3828100
hg1928100
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610567
Supporting Variants
SamplesHG00623
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12524385
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