A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7026002



Internal ID9985272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54772391..54828278hg38UCSC Ensembl
Innerchr19:55283843..55339733hg19UCSC Ensembl
Innerchr19:59975655..60031545hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3855888
hg1955891
hg1855891
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760527
Supporting Variants
SamplesRW_0010
Known GenesKIR2DL1, KIR2DL4, KIR3DL1, 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)essv7026002
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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