A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6243728



Internal ID8788258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:123213508..123219979hg38UCSC Ensembl
Outerchr9:123213471..123220029hg38UCSC Ensembl
Innerchr9:125975787..125982258hg19UCSC Ensembl
Outerchr9:125975750..125982308hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg386559
hg196559
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2658555
Supporting Variants
SamplesHG00231
Known GenesSTRBP
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6243728
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