A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588030



Internal ID6628330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:178250015..178254170hg38UCSC Ensembl
Innerchr1:178250026..178254160hg38UCSC Ensembl
Outerchr1:178250005..178254181hg38UCSC Ensembl
chr1:178219150..178223305hg19UCSC Ensembl
Innerchr1:178219161..178223295hg19UCSC Ensembl
Outerchr1:178219140..178223316hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg384156
hg194156
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10193451
SamplesNA19119
Known GenesRASAL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588030
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