A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7006971



Internal ID10342016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:210431402..210441949hg38UCSC Ensembl
Innerchr1:210604746..210615293hg19UCSC Ensembl
Innerchr1:208671369..208681916hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3810548
hg1910548
hg1810548
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764216
Supporting Variants
SamplesRW_0258
Known GenesHHAT
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)essv7006971
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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