A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6999299



Internal ID10020565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16559640..16643961hg38UCSC Ensembl
Innerchr1:16886135..16970456hg19UCSC Ensembl
Innerchr1:16758722..16843043hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3884322
hg1984322
hg1884322
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763736
Supporting Variants
SamplesSW_1213
Known GenesCROCCP2, NBPF1
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)essv6999299
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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