A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7015866



Internal ID9995515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7001293..7397588hg38UCSC Ensembl
Innerchr8:6858815..7255110hg19UCSC Ensembl
Innerchr8:6846225..7242520hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38396296
hg19396296
hg18396296
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761169
Supporting Variants
SamplesRW_0266
Known GenesDEFA1, DEFA11P, DEFA1B, DEFA3, DEFA5, DEFB109P1B, DEFT1P, DEFT1P2, FAM66B, LINC00965, USP17L1P, USP17L4, ZNF705G
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)essv7015866
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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