A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7005087



Internal ID9986607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16679239..16788217hg38UCSC Ensembl
Innerchr1:17005734..17114712hg19UCSC Ensembl
Innerchr1:16878321..16987299hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38108979
hg19108979
hg18108979
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764199
Supporting Variants
SamplesRW_0043
Known GenesESPNP, LOC729574, MIR3675, MST1L
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)essv7005087
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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