A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587942



Internal ID6975365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:173335434..173338832hg38UCSC Ensembl
chr1:173304573..173307971hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg383399
hg193399
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv60e214
Supporting Variantsessv10188522, essv10188521, essv10188523, essv10188520, essv10188524
SamplesHG03629, NA20906, NA20897, HG03985, HG01583
Known GenesLOC100506023
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587942
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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