A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7005414



Internal ID9999799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:71805544..71930270hg38UCSC Ensembl
Innerchr1:72271227..72395953hg19UCSC Ensembl
Innerchr1:72043815..72168541hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38124727
hg19124727
hg18124727
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762150
Supporting Variants
SamplesRW_0536
Known GenesNEGR1, NEGR1-IT1
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)essv7005414
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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