A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14401324



Internal ID1717249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:19162892..19168503hg38UCSC Ensembl
Innerchr12:19162942..19168453hg38UCSC Ensembl
Outerchr12:19162842..19168553hg38UCSC Ensembl
chr12:19315826..19321437hg19UCSC Ensembl
Innerchr12:19315876..19321387hg19UCSC Ensembl
Outerchr12:19315776..19321487hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg385612
hg195612
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628750
Supporting Variants
SamplesHG01597
Known GenesPLEKHA5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14401324
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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