A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762276



Internal ID10029626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:16236633..16743769hg38UCSC Ensembl
Innerchr16:16330490..16837626hg19UCSC Ensembl
Innerchr16:16237991..16745127hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38507137
hg19507137
hg18507137
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7000556, essv7000561, essv7000565, essv7000557, essv7000575, essv7000571, essv7000554, essv7000576, essv7000572, essv7000573, essv7000578, essv7000574, essv7000568, essv7000579, essv7000559, essv7000560, essv7000567, essv7000553, essv7000549, essv7000564, essv7000558, essv7000563, essv7000569, essv7000562, essv7000570, essv7000550, essv7000552, essv7000551
SamplesSW_1314, SW_1361, SW_0833, SW_1209, SW_1138, SW_0121, SW_1000, SW_0149, SW_1163, SW_1438, SW_0820, SW_1085, SW_1397, SW_1051, SW_1406, SW_1428, SW_1126, SW_1367, SW_0805, SW_0674, SW_0170, SW_1305, SW_1080, SW_0338, SW_0033, SW_1436
Known GenesLOC100288162, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, MIR6770-2, NOMO3, NPIPA7, NPIPA8, PKD1P1
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)esv2762276
Frequency
Sample Size1109
Observed Gain11
Observed Loss15
Observed Complex0
Frequencyn/a


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