A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7005082



Internal ID9997083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16641630..16686290hg38UCSC Ensembl
Innerchr1:16968125..17012785hg19UCSC Ensembl
Innerchr1:16840712..16885372hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3844661
hg1944661
hg1844661
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764199
Supporting Variants
SamplesRW_0314
Known GenesLOC729574, MIR3675, MST1P2
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)essv7005082
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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