A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7008687



Internal ID9994165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232384437..232406171hg38UCSC Ensembl
Innerchr2:233249147..233270881hg19UCSC Ensembl
Innerchr2:232957391..232979125hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3821735
hg1921735
hg1821735
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760660
Supporting Variants
SamplesRW_0230
Known GenesECEL1P2
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)essv7008687
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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