A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10144282



Internal ID3658242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:150186847..150188378hg38UCSC Ensembl
Innerchr1:150186859..150188367hg38UCSC Ensembl
Outerchr1:150186836..150188390hg38UCSC Ensembl
chr1:150159097..150160635hg19UCSC Ensembl
Innerchr1:150159109..150160624hg19UCSC Ensembl
Outerchr1:150159086..150160647hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg381532
hg191539
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587500
Supporting Variants
SamplesHG03258
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10144282
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