A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762254



Internal ID10029604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:14741210..15322653hg38UCSC Ensembl
Innerchr16:14835067..15416510hg19UCSC Ensembl
Innerchr16:14742568..15324011hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38581444
hg19581444
hg18581444
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7000527, essv7000547, essv7000531, essv7000526, essv7000545, essv7000529, essv7000546, essv7000540, essv7000532, essv7000542, essv7000534, essv7000536, essv7000543, essv7000537, essv7000528, essv7000530, essv7000538, essv7000535, essv7000539, essv7000541, essv7000548
SamplesSW_1346, SW_1405, SW_1371, SW_1439, SW_0044, SW_1314, SW_0165, SW_1470, SW_1281, SW_1402, SW_1358, SW_1340, SW_1130, SW_1295, SW_1425, SW_0147, SW_1428, SW_1433, SW_1476, SW_1436, SW_1374
Known GenesABCC6P2, LOC100288162, MIR1972-1, MIR1972-2, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR3180-4, MIR6511A-2, MIR6511B-1, MIR6770-2, NOMO1, NPIPA1, NPIPA2, NPIPA3, NTAN1, PDXDC1, RRN3
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)esv2762254
Frequency
Sample Size1109
Observed Gain20
Observed Loss1
Observed Complex0
Frequencyn/a


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