A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7008085



Internal ID9992556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131335459..131338866hg38UCSC Ensembl
Innerchr2:132093032..132096439hg19UCSC Ensembl
Innerchr2:131809502..131812909hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg383408
hg193408
hg183408
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760576
Supporting Variants
SamplesRW_0195
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)essv7008085
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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