A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595233



Internal ID6635507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:9180778..9183532hg38UCSC Ensembl
Innerchr3:9180782..9183528hg38UCSC Ensembl
Outerchr3:9180774..9183536hg38UCSC Ensembl
chr3:9222462..9225216hg19UCSC Ensembl
Innerchr3:9222466..9225212hg19UCSC Ensembl
Outerchr3:9222458..9225220hg19UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg382755
hg192755
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10917556, essv10917555
SamplesHG03085, HG02429
Known GenesSRGAP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595233
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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