A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7014769



Internal ID10003354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:65630053..66224746hg38UCSC Ensembl
Innerchr7:65094965..65689733hg19UCSC Ensembl
Innerchr7:64732400..65327168hg18UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38594694
hg19594769
hg18594769
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761079
Supporting Variants
SamplesRW_0629
Known GenesASL, CCT6P1, CRCP, GUSB, INTS4L2, LOC441242, SNORA22, TPST1, VKORC1L1
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)essv7014769
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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