A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761112



Internal ID10028474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:140491738..140534771hg38UCSC Ensembl
Innerchr7:140191538..140234571hg19UCSC Ensembl
Innerchr7:139838007..139881040hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3843034
hg1943034
hg1843034
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7015137, essv7015124, essv7015125, essv7015130, essv7015129, essv7015132, essv7015131, essv7015134, essv7015127, essv7015136, essv7015135, essv7015126, essv7015128
SamplesRW_0123, RW_0129, RW_0222, RW_0218, RW_0013, RW_0273, RW_0258, RW_0073, RW_0224, RW_0250, RW_0106, RW_0599, RW_0590
Known GenesDENND2A
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)esv2761112
Frequency
Sample Size1109
Observed Gain1
Observed Loss12
Observed Complex0
Frequencyn/a


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