A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14395117



Internal ID3539586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:15415479..15416423hg38UCSC Ensembl
Innerchr12:15415550..15416353hg38UCSC Ensembl
Outerchr12:15415409..15416494hg38UCSC Ensembl
chr12:15568413..15569357hg19UCSC Ensembl
Innerchr12:15568484..15569287hg19UCSC Ensembl
Outerchr12:15568343..15569428hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38945
hg19945
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628670
Supporting Variants
SamplesHG03127
Known GenesPTPRO
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14395117
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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