A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628889



Internal ID7015711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:25110977..25115029hg38UCSC Ensembl
Innerchr12:25110977..25115029hg38UCSC Ensembl
Outerchr12:25110755..25115279hg38UCSC Ensembl
chr12:25263911..25267963hg19UCSC Ensembl
Innerchr12:25263911..25267963hg19UCSC Ensembl
Outerchr12:25263689..25268213hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg384053
hg194053
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14414917, essv14414916, essv14414918
SamplesHG01438, HG01250, HG01134
Known GenesCASC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628889
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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