A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6992492



Internal ID10372196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12130217..12585546hg38UCSC Ensembl
Innerchr8:11987726..12443055hg19UCSC Ensembl
Innerchr8:12025135..12487426hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38455330
hg19455330
hg18462292
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764095
Supporting Variants
SamplesSW_1435
Known GenesDEFB109P1, DEFB130, FAM66A, FAM66D, FAM86B1, FAM86B2, FAM90A25P, FAM90A2P, LOC100133267, LOC100506990, LOC649352, LOC729732, USP17L2, USP17L7
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)essv6992492
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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