A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764174



Internal ID10031524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:69476351..69505361hg38UCSC Ensembl
Innerchr9:72091267..72120277hg19UCSC Ensembl
Innerchr9:71281087..71310097hg18UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg3829011
hg1929011
hg1829011
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv165e203
Supporting Variantsessv6994273, essv6994277, essv6994274, essv6994275, essv6994276
SamplesSW_0171, SW_1064, SW_1523, SW_0803, SW_1018
Known GenesAPBA1
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)esv2764174
Frequency
Sample Size1109
Observed Gain1
Observed Loss4
Observed Complex0
Frequencyn/a


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