A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628849



Internal ID6668990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:23552668..23555278hg38UCSC Ensembl
Innerchr12:23552668..23555278hg38UCSC Ensembl
Outerchr12:23552573..23555400hg38UCSC Ensembl
chr12:23705602..23708212hg19UCSC Ensembl
Innerchr12:23705602..23708212hg19UCSC Ensembl
Outerchr12:23705507..23708334hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg382611
hg192611
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14410206
SamplesHG02727
Known GenesSOX5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628849
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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