A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6991478



Internal ID10016774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103714258..103725600hg38UCSC Ensembl
Innerchr1:104256880..104268222hg19UCSC Ensembl
Innerchr1:104058403..104069745hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3811343
hg1911343
hg1811343
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763658
Supporting Variants
SamplesSW_1074
Known Genes
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)essv6991478
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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