A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990785



Internal ID10023533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:30615466..31127062hg38UCSC Ensembl
Innerchr7:30655082..31166676hg19UCSC Ensembl
Innerchr7:30621607..31133201hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38511597
hg19511595
hg18511595
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761316
Supporting Variants
SamplesSW_1346
Known GenesADCYAP1R1, AQP1, CRHR2, FAM188B, GARS, GHRHR, INMT, INMT-FAM188B
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)essv6990785
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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