A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10177442



Internal ID179258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:165678149..165687881hg38UCSC Ensembl
Innerchr1:165678299..165687731hg38UCSC Ensembl
Outerchr1:165677999..165688031hg38UCSC Ensembl
chr1:165647386..165657118hg19UCSC Ensembl
Innerchr1:165647536..165656968hg19UCSC Ensembl
Outerchr1:165647236..165657268hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg389733
hg199733
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587809
Supporting Variants
SamplesHG01746
Known GenesALDH9A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10177442
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