A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762176



Internal ID10029526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:18540265..18771852hg38UCSC Ensembl
Innerchr16:18551587..18783174hg19UCSC Ensembl
Innerchr16:18459088..18690675hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38231588
hg19231588
hg18231588
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7000581, essv7000590, essv7000589, essv7000584, essv7000583, essv7000585, essv7000591, essv7000582, essv7000587, essv7000586, essv7000580
SamplesSW_1071, SW_0833, SW_1209, SW_1438, SW_1089, SW_1051, SW_1126, SW_0634, SW_0102, SW_1156, SW_0338
Known GenesABCC6P1, NOMO2
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)esv2762176
Frequency
Sample Size1109
Observed Gain7
Observed Loss4
Observed Complex0
Frequencyn/a


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