A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14414917



Internal ID1380616
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628889
Supporting Variants
SamplesHG01250
Known GenesCASC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14414917
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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