A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10265014



Internal ID266830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:202332555..202341667hg38UCSC Ensembl
Innerchr1:202333055..202341167hg38UCSC Ensembl
Outerchr1:202331555..202342667hg38UCSC Ensembl
chr1:202301683..202310795hg19UCSC Ensembl
Innerchr1:202302183..202310295hg19UCSC Ensembl
Outerchr1:202300683..202311795hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg389113
hg199113
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588581
Supporting Variants
SamplesNA19092
Known GenesUBE2T
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10265014
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