A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6575787



Internal ID9764444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:100749629..100752496hg38UCSC Ensembl
Outerchr1:100749592..100752546hg38UCSC Ensembl
Innerchr1:101215185..101218052hg19UCSC Ensembl
Outerchr1:101215148..101218102hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg382955
hg192955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2672097
Supporting Variants
SamplesNA19720
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6575787
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