A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10085192



Internal ID6223520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:121399315..121428461hg38UCSC Ensembl
Innerchr1:121399315..121428461hg38UCSC Ensembl
Outerchr1:121398815..121428961hg38UCSC Ensembl
chr1:121141175..121170321hg19UCSC Ensembl
Innerchr1:121141175..121170321hg19UCSC Ensembl
Outerchr1:121140675..121170821hg19UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg3829147
hg1929147
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587355
Supporting Variants
SamplesNA19750
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10085192
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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