A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990944



Internal ID10009174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:88041426..88043077hg38UCSC Ensembl
Innerchr7:87670741..87672392hg19UCSC Ensembl
Innerchr7:87508677..87510328hg18UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg381652
hg191652
hg181652
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764029
Supporting Variants
SamplesSW_0295
Known GenesADAM22
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)essv6990944
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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