A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760135



Internal ID10027498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:15628970..15634149hg38UCSC Ensembl
Innerchr10:15670969..15676148hg19UCSC Ensembl
Innerchr10:15710975..15716154hg18UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg385180
hg195180
hg185180
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7018193, essv7018192, essv7018194, essv7018190, essv7018191
SamplesRW_0607, RW_0154, RW_0003, RW_0349, RW_0251
Known GenesITGA8
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)esv2760135
Frequency
Sample Size1109
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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