A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7002657



Internal ID10023061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:73399034..73407981hg38UCSC Ensembl
Innerchr17:71395173..71404120hg19UCSC Ensembl
Innerchr17:68906768..68915715hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg388948
hg198948
hg188948
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761975
Supporting Variants
SamplesSW_1323
Known GenesSDK2
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)essv7002657
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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