A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10187608



Internal ID189424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:170669907..170671897hg38UCSC Ensembl
Innerchr1:170669927..170671878hg38UCSC Ensembl
Outerchr1:170669888..170671917hg38UCSC Ensembl
chr1:170639048..170641038hg19UCSC Ensembl
Innerchr1:170639068..170641019hg19UCSC Ensembl
Outerchr1:170639029..170641058hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg381991
hg191991
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587902
Supporting Variants
SamplesHG02061
Known GenesPRRX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10187608
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