A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7002662



Internal ID10352684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:78618038..78634683hg38UCSC Ensembl
Innerchr17:76614120..76630765hg19UCSC Ensembl
Innerchr17:74125715..74142360hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3816646
hg1916646
hg1816646
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761981
Supporting Variants
SamplesSW_0060
Known Genes
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)essv7002662
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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