A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14412152



Internal ID4413968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:24307478..24307767hg38UCSC Ensembl
Innerchr12:24307478..24307767hg38UCSC Ensembl
Outerchr12:24307478..24307767hg38UCSC Ensembl
chr12:24460412..24460701hg19UCSC Ensembl
Innerchr12:24460412..24460701hg19UCSC Ensembl
Outerchr12:24460412..24460701hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38290
hg19290
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628866
Supporting Variants
SamplesHG02230
Known GenesSOX5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14412152
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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