A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764215



Internal ID10378251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:49438964..49536575hg38UCSC Ensembl
Innerchr1:49904636..50002247hg19UCSC Ensembl
Innerchr1:49677223..49774834hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3897612
hg1997612
hg1897612
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7005374, essv7005376, essv7005375
SamplesRW_0567, RW_0124, RW_0060
Known GenesAGBL4
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)esv2764215
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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