A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764015



Internal ID10031365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102595265..102676662hg38UCSC Ensembl
Innerchr7:102235712..102317109hg19UCSC Ensembl
Innerchr7:102022781..102104345hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3881398
hg1981398
hg1881565
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6990991, essv6990995, essv6990992, essv6990993, essv6990994
SamplesSW_1171, SW_0663, SW_0285, SW_1174, SW_0861
Known GenesPOLR2J2, POLR2J3, RASA4, RASA4B, SPDYE2, SPDYE2B, UPK3BL
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)esv2764015
Frequency
Sample Size1109
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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