A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588031



Internal ID6628331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:178323830..178329518hg38UCSC Ensembl
Innerchr1:178323830..178329518hg38UCSC Ensembl
Outerchr1:178323670..178329650hg38UCSC Ensembl
chr1:178292965..178298653hg19UCSC Ensembl
Innerchr1:178292965..178298653hg19UCSC Ensembl
Outerchr1:178292805..178298785hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg385689
hg195689
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10193453, essv10193452
SamplesHG04225, HG01105
Known GenesRASAL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588031
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer