A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6354890



Internal ID8995901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:29037741..29038740hg38UCSC Ensembl
chr8:28895258..28896257hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2676816
Supporting Variants
SamplesHG00593
Known GenesHMBOX1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6354890
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