A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990820



Internal ID10015699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:54574291..55097556hg38UCSC Ensembl
Innerchr7:54641984..55165249hg19UCSC Ensembl
Innerchr7:54609478..55132743hg18UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38523266
hg19523266
hg18523266
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761332
Supporting Variants
SamplesSW_1034
Known GenesEGFR, SEC61G
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)essv6990820
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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