A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7016323



Internal ID10005476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:97078611..97192190hg38UCSC Ensembl
Innerchr2:97744348..97857927hg19UCSC Ensembl
Innerchr2:97108075..97221654hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38113580
hg19113580
hg18113580
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763630
Supporting Variants
SamplesSW_0032
Known GenesANKRD36, FAHD2B
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)essv7016323
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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