A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10312659



Internal ID3832920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:228689215..228690622hg38UCSC Ensembl
Innerchr1:228689215..228690622hg38UCSC Ensembl
Outerchr1:228689034..228690859hg38UCSC Ensembl
chr1:228824962..228826369hg19UCSC Ensembl
Innerchr1:228824962..228826369hg19UCSC Ensembl
Outerchr1:228824781..228826606hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg381408
hg191408
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589055
Supporting Variants
SamplesHG03470
Known GenesRHOU
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10312659
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