A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760553



Internal ID10376861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:139409909..139495241hg38UCSC Ensembl
Innerchr2:140167479..140252811hg19UCSC Ensembl
Innerchr2:139883949..139969281hg18UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3885333
hg1985333
hg1885333
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7008145, essv7008148, essv7008147, essv7008146
SamplesRW_0636, RW_0560, RW_0302, RW_0278
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)esv2760553
Frequency
Sample Size1109
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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