A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7015528



Internal ID10349189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:144241220..144264862hg38UCSC Ensembl
Innerchr7:143938313..143961955hg19UCSC Ensembl
Innerchr7:143569246..143592888hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3823643
hg1923643
hg1823643
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761101
Supporting Variants
SamplesRW_0608
Known GenesARHGEF34P, OR2A20P, 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)essv7015528
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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