A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10917571



Internal ID919387
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595237
Supporting Variants
SamplesNA12815
Known GenesSETD5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10917571
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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