A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7015505



Internal ID10351119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:144214531..144336758hg38UCSC Ensembl
Innerchr7:143911624..144033851hg19UCSC Ensembl
Innerchr7:143542557..143664784hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38122228
hg19122228
hg18122228
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761101
Supporting Variants
SamplesRW_0662
Known GenesARHGEF34P, CTAGE4, CTAGE8, OR2A1, OR2A20P, OR2A42, OR2A7, OR2A9P
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)essv7015505
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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