A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7014709



Internal ID9998712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:57086717..57960264hg38UCSC Ensembl
Innerchr7:57154424..58019970hg19UCSC Ensembl
Innerchr7:57158366..58023912hg18UCSC Ensembl
Cytoband7p11.1
Allele length
AssemblyAllele length
hg38873548
hg19865547
hg18865547
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761119
Supporting Variants
SamplesRW_0509
Known GenesGUSBP10, MIR3147, ZNF479, ZNF716
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)essv7014709
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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