A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6991106



Internal ID10370893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:111397369..111442785hg38UCSC Ensembl
Innerchr7:111037425..111082841hg19UCSC Ensembl
Innerchr7:110824661..110870077hg18UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg3845417
hg1945417
hg1845417
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764041
Supporting Variants
SamplesSW_1377
Known GenesIMMP2L
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)essv6991106
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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