A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628863



Internal ID6669004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:24298364..24305858hg38UCSC Ensembl
Innerchr12:24298364..24305858hg38UCSC Ensembl
Outerchr12:24298114..24306091hg38UCSC Ensembl
chr12:24451298..24458792hg19UCSC Ensembl
Innerchr12:24451298..24458792hg19UCSC Ensembl
Outerchr12:24451048..24459025hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg387495
hg197495
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14411031
SamplesHG02721
Known GenesSOX5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628863
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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