A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7013121



Internal ID10002379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140844251..140864171hg38UCSC Ensembl
Innerchr5:140223836..140243756hg19UCSC Ensembl
Innerchr5:140204020..140223940hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3819921
hg1919921
hg1819921
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760963
Supporting Variants
SamplesRW_0606
Known GenesPCDHA1, PCDHA10, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9
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)essv7013121
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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