A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10291214



Internal ID6403656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:213328487..213329501hg38UCSC Ensembl
Innerchr1:213328512..213329476hg38UCSC Ensembl
Outerchr1:213328462..213329526hg38UCSC Ensembl
chr1:213501830..213502844hg19UCSC Ensembl
Innerchr1:213501855..213502819hg19UCSC Ensembl
Outerchr1:213501805..213502869hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381015
hg191015
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588766
Supporting Variants
SamplesNA20351
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10291214
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