A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7007009



Internal ID10350441
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 StatusS
Merged Variantsesv2764227
Supporting Variants
SamplesRW_0639
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)essv7007009
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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