A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7004744



Internal ID10019402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16691035..16729962hg38UCSC Ensembl
Innerchr1:17017530..17056457hg19UCSC Ensembl
Innerchr1:16890117..16929044hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3838928
hg1938928
hg1838928
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763736
Supporting Variants
SamplesSW_1167
Known GenesESPNP
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)essv7004744
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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