A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7014325



Internal ID10003540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:151983097..151992906hg38UCSC Ensembl
Innerchr6:152304232..152314041hg19UCSC Ensembl
Innerchr6:152345925..152355734hg18UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg389810
hg199810
hg189810
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761004
Supporting Variants
SamplesRW_0634
Known GenesESR1
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)essv7014325
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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