A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7005390



Internal ID10342699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:56616786..56629228hg38UCSC Ensembl
Innerchr1:57082459..57094901hg19UCSC Ensembl
Innerchr1:56855047..56867489hg18UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg3812443
hg1912443
hg1812443
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762142
Supporting Variants
SamplesRW_0276
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)essv7005390
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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