A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892160



Internal ID18839870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:23769675..23803255hg38UCSC Ensembl
Outerchr12:23769675..23803255hg38UCSC Ensembl
Innerchr12:23922609..23956189hg19UCSC Ensembl
Outerchr12:23922609..23956189hg19UCSC Ensembl
Innerchr12:23813876..23847456hg18UCSC Ensembl
Outerchr12:23813876..23847456hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3833581
hg1933581
hg1833581
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25796758
Samples
Known GenesSOX5
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892160
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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