A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761250



Internal ID10377557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:5385783..5407409hg38UCSC Ensembl
Innerchr9:5385783..5407409hg19UCSC Ensembl
Innerchr9:5375783..5397409hg18UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg3821627
hg1921627
hg1821627
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7017524, essv7017515, essv7017499, essv7017498, essv7017503, essv7017507, essv7017510, essv7017521, essv7017516, essv7017508, essv7017513, essv7017504, essv7017518, essv7017505, essv7017519, essv7017506, essv7017520, essv7017517, essv7017512, essv7017501, essv7017497, essv7017514, essv7017509, essv7017502
SamplesRW_0348, RW_0039, RW_0105, RW_0262, RW_0650, RW_0146, RW_0555, RW_0536, RW_0512, RW_0639, RW_0272, RW_0531, RW_0567, RW_0607, RW_0193, RW_0068, RW_0523, RW_0564, RW_0142, RW_0562, RW_0117, RW_0351, RW_0285, RW_0047
Known GenesPLGRKT
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)esv2761250
Frequency
Sample Size1109
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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