A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10292849



Internal ID711018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:215480995..215482773hg38UCSC Ensembl
Innerchr1:215480995..215482773hg38UCSC Ensembl
Outerchr1:215480725..215483054hg38UCSC Ensembl
chr1:215654338..215656116hg19UCSC Ensembl
Innerchr1:215654338..215656116hg19UCSC Ensembl
Outerchr1:215654068..215656397hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg381779
hg191779
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588811
Supporting Variants
SamplesHG00334
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10292849
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