A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677299



Internal ID9596718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:73444755..73445583hg38UCSC Ensembl
Outerchr7:73444718..73445633hg38UCSC Ensembl
Innerchr7:72859085..72859913hg19UCSC Ensembl
Outerchr7:72859048..72859963hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38916
hg19916
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5531226, essv6562266, essv5456329
SamplesNA19350, NA18856, NA19380
Known GenesBAZ1B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677299
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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