A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7025592



Internal ID9992604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:35209144..35247497hg38UCSC Ensembl
Innerchr19:35700047..35738400hg19UCSC Ensembl
Innerchr19:40391887..40430240hg18UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg3838354
hg1938354
hg1838354
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763203
Supporting Variants
SamplesRW_0195
Known GenesFAM187B
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)essv7025592
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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