A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764227



Internal ID10378263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:231176121..231188285hg38UCSC Ensembl
Innerchr1:231311867..231324031hg19UCSC Ensembl
Innerchr1:229378490..229390654hg18UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3812165
hg1912165
hg1812165
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7007002, essv7007005, essv7007003, essv7007006, essv7007008, essv7007009, essv7007004, essv7007007
SamplesRW_0146, RW_0131, RW_0639, RW_0272, RW_0173, RW_0224, RW_0201, RW_0669
Known GenesLOC149373, TRIM67
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)esv2764227
Frequency
Sample Size1109
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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