A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14410215



Internal ID4412031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:23623666..23625473hg38UCSC Ensembl
Innerchr12:23623666..23625473hg38UCSC Ensembl
Outerchr12:23623567..23625652hg38UCSC Ensembl
chr12:23776600..23778407hg19UCSC Ensembl
Innerchr12:23776600..23778407hg19UCSC Ensembl
Outerchr12:23776501..23778586hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg381808
hg191808
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628851
Supporting Variants
SamplesHG02643
Known GenesSOX5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14410215
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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