A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628319



Internal ID7015143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2759016..2761852hg38UCSC Ensembl
Innerchr12:2759033..2761835hg38UCSC Ensembl
Outerchr12:2758999..2761869hg38UCSC Ensembl
chr12:2868182..2871018hg19UCSC Ensembl
Innerchr12:2868199..2871001hg19UCSC Ensembl
Outerchr12:2868165..2871035hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg382837
hg192837
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14337493, essv14337497, essv14337500, essv14337491, essv14337503, essv14337496, essv14337507, essv14337498, essv14337502, essv14337506, essv14337495, essv14337492, essv14337501, essv14337499, essv14337494, essv14337504, essv14337505
SamplesHG02628, HG03247, HG03199, NA19678, HG02054, NA20287, HG03270, NA19657, HG03575, HG01889, HG03563, HG02586, HG03461, HG00353, NA19439, HG01883, NA18505
Known GenesLOC283440
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628319
Frequency
Sample Size2504
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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