A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760611



Internal ID10027973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:167088442..167092998hg38UCSC Ensembl
Innerchr2:167944952..167949508hg19UCSC Ensembl
Innerchr2:167653198..167657754hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg384557
hg194557
hg184557
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7008250, essv7008251, essv7008252
SamplesRW_0646, RW_0666, RW_0062
Known GenesXIRP2
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)esv2760611
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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