A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7005674



Internal ID9996286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103613021..103621165hg38UCSC Ensembl
Innerchr1:104155643..104163787hg19UCSC Ensembl
Innerchr1:103957166..103965310hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg388145
hg198145
hg188145
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764261
Supporting Variants
SamplesRW_0281
Known GenesAMY2A
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)essv7005674
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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