A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7007988



Internal ID10348835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:123357657..123413328hg38UCSC Ensembl
Innerchr2:124115233..124170904hg19UCSC Ensembl
Innerchr2:123831703..123887374hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3855672
hg1955672
hg1855672
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760647
Supporting Variants
SamplesRW_0601
Known Genes
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)essv7007988
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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