A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990789



Internal ID10024573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:38239282..38263833hg38UCSC Ensembl
Innerchr7:38278883..38303434hg19UCSC Ensembl
Innerchr7:38245408..38269959hg18UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3824552
hg1924552
hg1824552
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764044
Supporting Variants
SamplesSW_1396
Known GenesTARP
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)essv6990789
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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