A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7016629



Internal ID10348436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39378084..39527675hg38UCSC Ensembl
Innerchr8:39235603..39385194hg19UCSC Ensembl
Innerchr8:39354760..39504351hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38149592
hg19149592
hg18149592
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761164
Supporting Variants
SamplesRW_0591
Known GenesADAM3A, ADAM5
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)essv7016629
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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