A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11741731



Internal ID1743547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:186072002..186212619hg38UCSC Ensembl
chr4:186993156..187133773hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38140618
hg19140618
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603519
Supporting Variants
SamplesNA20847
Known GenesCYP4V2, FAM149A, FLJ38576, TLR3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11741731
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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