A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6995589



Internal ID10018977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:119559935..119586942hg38UCSC Ensembl
Innerchr1:120102558..120129565hg19UCSC Ensembl
Innerchr1:119904081..119931088hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3827008
hg1927008
hg1827008
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763647
Supporting Variants
SamplesSW_1148
Known GenesHSD3BP4
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)essv6995589
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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