A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630967



Internal ID7017781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122150511..122166206hg38UCSC Ensembl
Innerchr12:122151011..122165706hg38UCSC Ensembl
Outerchr12:122149511..122167206hg38UCSC Ensembl
chr12:122635058..122650753hg19UCSC Ensembl
Innerchr12:122635558..122650253hg19UCSC Ensembl
Outerchr12:122634058..122651753hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3815696
hg1915696
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14620050, essv14620060, essv14620052, essv14620066, essv14620057, essv14620041, essv14620063, essv14620055, essv14620053, essv14620071, essv14620068, essv14620054, essv14620056, essv14620042, essv14620070, essv14620048, essv14620067, essv14620044, essv14620051, essv14620047, essv14620064, essv14620062, essv14620061, essv14620065, essv14620046, essv14620059, essv14620069, essv14620058, essv14620043, essv14620045, essv14620049
SamplesNA19028, NA19141, HG01965, NA19466, HG03052, HG03175, HG03517, HG02798, HG02891, HG03100, HG03297, HG02769, HG03133, HG01250, HG03168, HG03224, NA20342, HG02623, HG02439, HG03547, HG01095, NA19982, HG02508, HG03027, HG02976, NA19114, HG02799, NA19324, NA19248, HG03112, HG01377
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630967
Frequency
Sample Size2504
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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