A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628873



Internal ID6669014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:24515623..24529604hg38UCSC Ensembl
Innerchr12:24515623..24529604hg38UCSC Ensembl
Outerchr12:24515123..24530104hg38UCSC Ensembl
chr12:24668557..24682538hg19UCSC Ensembl
Innerchr12:24668557..24682538hg19UCSC Ensembl
Outerchr12:24668057..24683038hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3813982
hg1913982
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14414436
SamplesHG00671
Known GenesSOX5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628873
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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