A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7025738



Internal ID9994230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:43130018..43286599hg38UCSC Ensembl
Innerchr19:43634170..43790751hg19UCSC Ensembl
Innerchr19:48326010..48482591hg18UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38156582
hg19156582
hg18156582
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760524
Supporting Variants
SamplesRW_0231
Known GenesLOC284344, PSG4, PSG5, PSG9
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)essv7025738
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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