A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628624



Internal ID7015448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:12745191..12746238hg38UCSC Ensembl
Innerchr12:12745191..12746238hg38UCSC Ensembl
Outerchr12:12745031..12746391hg38UCSC Ensembl
chr12:12898125..12899172hg19UCSC Ensembl
Innerchr12:12898125..12899172hg19UCSC Ensembl
Outerchr12:12897965..12899325hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg381048
hg191048
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14388919, essv14388917, essv14388916, essv14388920, essv14388903, essv14388915, essv14388907, essv14388904, essv14388905, essv14388914, essv14388918, essv14388901, essv14388911, essv14388908, essv14388906, essv14388913, essv14388912, essv14388909, essv14388910, essv14388902
SamplesNA18502, HG02574, HG02891, HG03572, NA19307, HG02642, NA19175, HG03457, HG02953, HG03382, HG02813, HG02837, HG01396, NA19144, HG02580, NA19143, NA19438, HG03049, NA19312, HG02629
Known GenesAPOLD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628624
Frequency
Sample Size2504
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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