A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6230048



Internal ID9005171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32486839..32543595hg38UCSC Ensembl
Outerchr6:32486468..32544015hg38UCSC Ensembl
Innerchr6:32454616..32511372hg19UCSC Ensembl
Outerchr6:32454245..32511792hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3857548
hg1957548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2676068
Supporting Variants
SamplesHG00613
Known GenesHLA-DRB5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6230048
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer