A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7003763



Internal ID10007824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54786431..54856908hg38UCSC Ensembl
Innerchr19:55297883..55368363hg19UCSC Ensembl
Innerchr19:59989695..60060175hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3870478
hg1970481
hg1870481
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763021
Supporting Variants
SamplesSW_0173
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)essv7003763
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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