A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7003765



Internal ID10016506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54786431..54867244hg38UCSC Ensembl
Innerchr19:55297883..55378699hg19UCSC Ensembl
Innerchr19:59989695..60070511hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3880814
hg1980817
hg1880817
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763021
Supporting Variants
SamplesSW_1065
Known GenesKIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, LOC100287534
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)essv7003765
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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