A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6991910



Internal ID10366862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:144214531..144369854hg38UCSC Ensembl
Innerchr7:143911624..144066947hg19UCSC Ensembl
Innerchr7:143542557..143697880hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38155324
hg19155324
hg18155324
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764030
Supporting Variants
SamplesSW_1198
Known GenesARHGEF34P, ARHGEF5, CTAGE4, CTAGE8, OR2A1, OR2A20P, OR2A42, OR2A7, OR2A9P, RNU6-57P
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)essv6991910
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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