A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5506749



Internal ID8484152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:44709446..44710343hg38UCSC Ensembl
Outerchr1:44709409..44710393hg38UCSC Ensembl
Innerchr1:45175118..45176015hg19UCSC Ensembl
Outerchr1:45175081..45176065hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38985
hg19985
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2662778
Supporting Variants
SamplesHG00629
Known GenesC1orf228
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5506749
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