A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7016312



Internal ID10007310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:97065396..97545726hg38UCSC Ensembl
Innerchr2:97731133..98162189hg19UCSC Ensembl
Innerchr2:97094860..97528621hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38480331
hg19431057
hg18433762
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763630
Supporting Variants
SamplesSW_0148
Known GenesANKRD36, ANKRD36B, FAHD2B, LOC100506076, LOC100506123
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)essv7016312
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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