A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10080963



Internal ID2871917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:115943925..115950521hg38UCSC Ensembl
Innerchr1:115943933..115950513hg38UCSC Ensembl
Outerchr1:115943917..115950529hg38UCSC Ensembl
chr1:116486546..116493142hg19UCSC Ensembl
Innerchr1:116486554..116493134hg19UCSC Ensembl
Outerchr1:116486538..116493150hg19UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg386597
hg196597
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587295
Supporting Variants
SamplesHG02546
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10080963
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