A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5396047



Internal ID9335747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:76919031..76977235hg38UCSC Ensembl
Outerchr1:76918994..76977285hg38UCSC Ensembl
Innerchr1:77384716..77442920hg19UCSC Ensembl
Outerchr1:77384679..77442970hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3858292
hg1958292
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2676599
Supporting Variants
SamplesNA18534
Known GenesST6GALNAC5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5396047
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