A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11443258



Internal ID4893632
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600598
Supporting Variants
SamplesNA12414
Known GenesIGFBP7-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11443258
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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