A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595237



Internal ID6635511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:9412468..9417374hg38UCSC Ensembl
Innerchr3:9412517..9417325hg38UCSC Ensembl
Outerchr3:9412419..9417423hg38UCSC Ensembl
chr3:9454152..9459058hg19UCSC Ensembl
Innerchr3:9454201..9459009hg19UCSC Ensembl
Outerchr3:9454103..9459107hg19UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg384907
hg194907
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10917570, essv10917571
SamplesHG00346, NA12815
Known GenesSETD5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595237
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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