A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764252



Internal ID10031602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:53022198..53029207hg38UCSC Ensembl
Innerchr1:53487870..53494879hg19UCSC Ensembl
Innerchr1:53260458..53267467hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg387010
hg197010
hg187010
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7005382, essv7005381, essv7005380, essv7005386, essv7005384, essv7005385, essv7005387, essv7005379, essv7005377, essv7005388, essv7005383
SamplesRW_0020, RW_0541, RW_0571, RW_0021, RW_0505, RW_0059, RW_0049, RW_0540, RW_0110, RW_0147, RW_0137
Known GenesSCP2
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)esv2764252
Frequency
Sample Size1109
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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