A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5596440



Internal ID9090021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:25494395..25501836hg38UCSC Ensembl
Outerchr12:25494238..25501989hg38UCSC Ensembl
Innerchr12:25647329..25654770hg19UCSC Ensembl
Outerchr12:25647172..25654923hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg387752
hg197752
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2665786
Supporting Variants
SamplesHG01070
Known GenesIFLTD1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5596440
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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