A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14416039



Internal ID4997909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:25480842..25484319hg38UCSC Ensembl
chr12:25633776..25637253hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg383478
hg193478
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628896
Supporting Variants
SamplesNA18501
Known GenesIFLTD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14416039
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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