A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764236



Internal ID10031586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:21983381..22031772hg38UCSC Ensembl
Innerchr1:22309874..22358265hg19UCSC Ensembl
Innerchr1:22182461..22230852hg18UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3848392
hg1948392
hg1848392
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7005186, essv7005203, essv7005198, essv7005200, essv7005202, essv7005183, essv7005184, essv7005197, essv7005191, essv7005187, essv7005192, essv7005195, essv7005193, essv7005199, essv7005196, essv7005204, essv7005194, essv7005185
SamplesRW_0331, RW_0129, RW_0197, RW_0020, RW_0577, RW_0028, RW_0071, RW_0505, RW_0180, RW_0666, RW_0088, RW_0148, RW_0575, RW_0605, RW_0558, RW_0621, RW_0147, RW_0084
Known GenesCELA3A, CELA3B, LINC00339
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)esv2764236
Frequency
Sample Size1109
Observed Gain2
Observed Loss16
Observed Complex0
Frequencyn/a


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