A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14410833



Internal ID4412649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:23786512..23787278hg38UCSC Ensembl
Innerchr12:23786542..23787248hg38UCSC Ensembl
Outerchr12:23786482..23787308hg38UCSC Ensembl
chr12:23939446..23940212hg19UCSC Ensembl
Innerchr12:23939476..23940182hg19UCSC Ensembl
Outerchr12:23939416..23940242hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38767
hg19767
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628853
Supporting Variants
SamplesNA20502
Known GenesSOX5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14410833
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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