A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv151e203



Internal ID22760847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:97756261..97777749hg38UCSC Ensembl
chr7:97385573..97407061hg19UCSC Ensembl
chr7:97223509..97244997hg18UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg3821489
hg1921489
hg1821489
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2764049, esv2761089
SamplesSW_1372, SW_1021, SW_0030, SW_0620, RW_0012, SW_0099, SW_0816, SW_1106, SW_0200, SW_1055, RW_0570, RW_0024, SW_0062, SW_1243, SW_1196, RW_0505, RW_0155, RW_0140, RW_0281, SW_1506, RW_0260, SW_0663, SW_1265, SW_1018, SW_0524, RW_0183, SW_1180, SW_1424, SW_1046, SW_1267, SW_1303, SW_1250
Known Genes
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)dgv151e203
Frequency
Sample Size1109
Observed Gain7
Observed Loss25
Observed Complex0
Frequencyn/a


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