A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14410971



Internal ID4412787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:24158974..24159610hg38UCSC Ensembl
Innerchr12:24158974..24159610hg38UCSC Ensembl
Outerchr12:24158631..24159918hg38UCSC Ensembl
chr12:24311908..24312544hg19UCSC Ensembl
Innerchr12:24311908..24312544hg19UCSC Ensembl
Outerchr12:24311565..24312852hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38637
hg19637
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628858
Supporting Variants
SamplesHG00140
Known GenesSOX5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14410971
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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