A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv134e203



Internal ID20126359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:70959068..71095426hg38UCSC Ensembl
chr5:70254895..70391253hg19UCSC Ensembl
chr5:70290651..70427009hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38136359
hg19136359
hg18136359
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2763912, esv2760944
SamplesRW_0281, SW_1167, SW_0639, RW_0645, SW_1097, RW_0655, RW_0277, RW_0505, RW_0087, SW_0509, SW_1031, RW_0054, SW_1179, RW_0599, RW_0538, RW_0017, RW_0011
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, LOC647859, NAIP
MethodMerging
AnalysisTwo different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.
PlatformMerging
Comments
ReferenceVogler_et_al_2010
Pubmed ID21179565
Accession Number(s)dgv134e203
Frequency
Sample Size1109
Observed Gain10
Observed Loss15
Observed Complex0
Frequencyn/a


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