A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv132e1



Internal ID6307930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:155094978..155314807hg19UCSC Ensembl
chr1:153361602..153581431hg18UCSC Ensembl
chr1:151908051..152127880hg17UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Complex
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv11564, essv9229, essv17210, esv173, essv10088, essv15107
SamplesNA19173, NA19129, NA19128, NA19130, NA19171
Known GenesASH1L, CLK2, DPM3, EFNA1, FAM189B, FDPS, GBA, GBAP1, HCN3, KRTCAP2, MIR92B, MTX1, MUC1, PKLR, RUSC1, RUSC1-AS1, SCAMP3, SLC50A1, THBS3, TRIM46
Method
Analysis
Platform
Comments
ReferenceRedon et al 2006
Pubmed ID17122850
Accession Number(s)dgv132e1
Frequency
Sample Size271
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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