A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7015125



Internal ID9994922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:140492191..140507429hg38UCSC Ensembl
Innerchr7:140191991..140207229hg19UCSC Ensembl
Innerchr7:139838460..139853698hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3815239
hg1915239
hg1815239
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761112
Supporting Variants
SamplesRW_0250
Known Genes
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)essv7015125
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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