A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11741719



Internal ID1743535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:186008703..186213065hg38UCSC Ensembl
Innerchr4:186008853..186212915hg38UCSC Ensembl
Outerchr4:186008553..186213215hg38UCSC Ensembl
chr4:186929857..187134219hg19UCSC Ensembl
Innerchr4:186930007..187134069hg19UCSC Ensembl
Outerchr4:186929707..187134369hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38204363
hg19204363
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603517
Supporting Variants
SamplesNA20847
Known GenesCYP4V2, FAM149A, FLJ38576, TLR3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11741719
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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