A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7008729



Internal ID10344094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:241973315..242147305hg38UCSC Ensembl
Innerchr2:242915466..243089456hg19UCSC Ensembl
Innerchr2:242564139..242738129hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38173991
hg19173991
hg18173991
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760659
Supporting Variants
SamplesRW_0325
Known GenesLOC728323
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)essv7008729
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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