A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2849791



Internal ID10869488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:120175845..120179977hg38UCSC Ensembl
Outerchr1:145092948..145097083hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg384133
hg194136
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7119358
SamplesHuRef
Known GenesLOC100288142, NBPF9, SEC22B
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)esv2849791
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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