A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7007004



Internal ID10338082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:231176121..231186297hg38UCSC Ensembl
Innerchr1:231311867..231322043hg19UCSC Ensembl
Innerchr1:229378490..229388666hg18UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3810177
hg1910177
hg1810177
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764227
Supporting Variants
SamplesRW_0173
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)essv7007004
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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