A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628865



Internal ID6669006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:24303800..24306387hg38UCSC Ensembl
Innerchr12:24303859..24306329hg38UCSC Ensembl
Outerchr12:24303742..24306446hg38UCSC Ensembl
chr12:24456734..24459321hg19UCSC Ensembl
Innerchr12:24456793..24459263hg19UCSC Ensembl
Outerchr12:24456676..24459380hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg382588
hg192588
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14411366, essv14411367
SamplesNA19684, HG02721
Known GenesSOX5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628865
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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