A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761119



Internal ID10028481
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 gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7014710, essv7014709
SamplesRW_0509, RW_0358
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)esv2761119
Frequency
Sample Size1109
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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