A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6994617



Internal ID10366973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:29800021..29815039hg38UCSC Ensembl
Innerchr10:30088950..30103968hg19UCSC Ensembl
Innerchr10:30128956..30143974hg18UCSC Ensembl
Cytoband10p11.23
Allele length
AssemblyAllele length
hg3815019
hg1915019
hg1815019
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761587
Supporting Variants
SamplesSW_1203
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)essv6994617
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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