A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760646



Internal ID10028008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:87103855..87752811hg38UCSC Ensembl
Innerchr2:87330978..88052330hg19UCSC Ensembl
Innerchr2:87184489..87833445hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38648957
hg19721353
hg18648957
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7007740, essv7007746, essv7007749, essv7007742, essv7007741, essv7007743, essv7007736, essv7007747, essv7007739, essv7007748, essv7007735, essv7007750, essv7007737, essv7007738
SamplesRW_0123, RW_0510, RW_0243, RW_0274, RW_0180, RW_0250, RW_0057, RW_0212, RW_0001, RW_0205, RW_0138, RW_0302
Known GenesLINC00152, MIR4435-1, MIR4435-2, MIR4771-1, MIR4771-2, PLGLB1, PLGLB2
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)esv2760646
Frequency
Sample Size1109
Observed Gain5
Observed Loss7
Observed Complex0
Frequencyn/a


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