A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14395218



Internal ID3785226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:15415543..15420683hg38UCSC Ensembl
Innerchr12:15415544..15420682hg38UCSC Ensembl
Outerchr12:15415542..15420684hg38UCSC Ensembl
chr12:15568477..15573617hg19UCSC Ensembl
Innerchr12:15568478..15573616hg19UCSC Ensembl
Outerchr12:15568476..15573618hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg385141
hg195141
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628671
Supporting Variants
SamplesHG03433
Known GenesPTPRO
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14395218
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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