A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6994385



Internal ID10022922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:137030185..137191593hg38UCSC Ensembl
Innerchr9:139924637..140086045hg19UCSC Ensembl
Innerchr9:139044458..139205866hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38161409
hg19161409
hg18161409
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761561
Supporting Variants
SamplesSW_1314
Known GenesANAPC2, C9orf139, DPP7, ENTPD2, FUT7, GRIN1, LRRC26, MAN1B1, MAN1B1-AS1, MIR3621, NPDC1, SAPCD2, SSNA1, TMEM210, UAP1L1
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)essv6994385
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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