A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628859



Internal ID6669000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:24216938..24223069hg38UCSC Ensembl
Innerchr12:24217438..24222569hg38UCSC Ensembl
Outerchr12:24215938..24224069hg38UCSC Ensembl
chr12:24369872..24376003hg19UCSC Ensembl
Innerchr12:24370372..24375503hg19UCSC Ensembl
Outerchr12:24368872..24377003hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg386132
hg196132
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv261e214
Supporting Variantsessv14410972
SamplesHG02697
Known GenesSOX5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628859
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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