A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764008



Internal ID10031358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76443274..76977978hg38UCSC Ensembl
Innerchr7:76072591..76607295hg19UCSC Ensembl
Innerchr7:75910527..76445231hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38534705
hg19534705
hg18534705
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6990919, essv6990902, essv6990926, essv6990924, essv6990922, essv6990909, essv6990916, essv6990925, essv6990910, essv6990904, essv6990907, essv6990906, essv6990905, essv6990908, essv6990903, essv6990913, essv6990915, essv6990911, essv6990918, essv6990917, essv6990920, essv6990914, essv6990921
SamplesSW_1165, SW_1055, SW_0211, SW_0636, SW_1266, SW_0061, SW_1115, SW_1081, SW_1034, SW_1569, SW_0690, SW_1527, SW_1450, SW_1083, SW_1208, SW_0004, SW_0786, SW_0049, SW_1464, SW_1156, SW_0857, SW_0760, SW_1436
Known GenesDTX2, FDPSP2, LOC100133091, POMZP3, UPK3B
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)esv2764008
Frequency
Sample Size1109
Observed Gain19
Observed Loss4
Observed Complex0
Frequencyn/a


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