A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14414357



Internal ID4416173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:24417792..24430366hg38UCSC Ensembl
Innerchr12:24417815..24430343hg38UCSC Ensembl
Outerchr12:24417769..24430389hg38UCSC Ensembl
chr12:24570726..24583300hg19UCSC Ensembl
Innerchr12:24570749..24583277hg19UCSC Ensembl
Outerchr12:24570703..24583323hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3812575
hg1912575
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628871
Supporting Variants
SamplesHG01073
Known GenesSOX5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14414357
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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