A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588029



Internal ID6628329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:178150608..178158511hg38UCSC Ensembl
Innerchr1:178150608..178158511hg38UCSC Ensembl
Outerchr1:178150426..178158709hg38UCSC Ensembl
chr1:178119743..178127646hg19UCSC Ensembl
Innerchr1:178119743..178127646hg19UCSC Ensembl
Outerchr1:178119561..178127844hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg387904
hg197904
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10193450
SamplesHG02391
Known GenesRASAL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588029
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