A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630739



Internal ID7017554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:110711275..110715936hg38UCSC Ensembl
Innerchr12:110711276..110715935hg38UCSC Ensembl
Outerchr12:110711274..110715937hg38UCSC Ensembl
chr12:111149080..111153741hg19UCSC Ensembl
Innerchr12:111149081..111153740hg19UCSC Ensembl
Outerchr12:111149079..111153742hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg384662
hg194662
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14604135, essv14604128, essv14604132, essv14604130, essv14604131, essv14604138, essv14604129, essv14604133, essv14604127, essv14604137, essv14604134, essv14604136
SamplesNA19446, NA19379, NA18519, NA19201, HG02922, NA19917, HG03352, NA19445, NA19017, NA19206, HG01894, NA19214
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630739
Frequency
Sample Size2504
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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