A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14587395



Internal ID4589211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:100151299..100174084hg38UCSC Ensembl
Innerchr12:100151799..100173584hg38UCSC Ensembl
Outerchr12:100150299..100175084hg38UCSC Ensembl
chr12:100545077..100567862hg19UCSC Ensembl
Innerchr12:100545577..100567362hg19UCSC Ensembl
Outerchr12:100544077..100568862hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3822786
hg1922786
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630549
Supporting Variants
SamplesHG01395
Known GenesGOLGA2P5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14587395
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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