A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7004390



Internal ID10006197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:30547730..30624847hg38UCSC Ensembl
Innerchr21:31920049..31997166hg19UCSC Ensembl
Innerchr21:30841920..30919037hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg3877118
hg1977118
hg1877118
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762105
Supporting Variants
SamplesSW_0073
Known GenesKRTAP19-7, KRTAP20-1, KRTAP20-4, KRTAP22-1, KRTAP22-2, KRTAP6-1, KRTAP6-2, KRTAP6-3
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)essv7004390
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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