A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14416055



Internal ID1911285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:25480842..25484319hg38UCSC Ensembl
chr12:25633776..25637253hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg383478
hg193478
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628897
Supporting Variants
SamplesHG01791
Known GenesIFLTD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14416055
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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