A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600598



Internal ID6987640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:57179132..57232969hg38UCSC Ensembl
chr4:58045298..58099135hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3853838
hg1953838
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1001e214
Supporting Variantsessv11443253, essv11443256, essv11443254, essv11443257, essv11443255, essv11443258, essv11443259
SamplesNA12414, HG01170, HG01256, NA19663, HG01613, HG00256, HG01917
Known GenesIGFBP7-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600598
Frequency
Sample Size2504
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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