A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629802



Internal ID7016623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:66362368..66363208hg38UCSC Ensembl
Innerchr12:66362371..66363206hg38UCSC Ensembl
Outerchr12:66362366..66363211hg38UCSC Ensembl
chr12:66756148..66756988hg19UCSC Ensembl
Innerchr12:66756151..66756986hg19UCSC Ensembl
Outerchr12:66756146..66756991hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg38841
hg19841
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14517252, essv14517288, essv14517296, essv14517253, essv14517255, essv14517245, essv14517277, essv14517279, essv14517286, essv14517269, essv14517242, essv14517240, essv14517260, essv14517248, essv14517266, essv14517268, essv14517259, essv14517261, essv14517282, essv14517264, essv14517283, essv14517244, essv14517243, essv14517281, essv14517249, essv14517254, essv14517274, essv14517273, essv14517285, essv14517280, essv14517258, essv14517263, essv14517297, essv14517251, essv14517292, essv14517247, essv14517291, essv14517262, essv14517267, essv14517287, essv14517295, essv14517275, essv14517250, essv14517271, essv14517293, essv14517270, essv14517290, essv14517265, essv14517289, essv14517257, essv14517246, essv14517272, essv14517294, essv14517276, essv14517256, essv14517284, essv14517278, essv14517241
SamplesHG03484, HG03548, NA19399, HG02804, HG03298, HG03297, NA20346, HG03193, NA20356, NA19920, HG03478, HG03095, HG03385, HG03168, NA19448, HG03485, NA19457, HG03479, NA19384, NA19922, NA19041, HG03212, NA20340, NA19025, HG03583, HG03114, NA18867, HG03270, HG01312, NA19247, HG03132, HG02582, NA19347, HG03291, HG02508, HG03388, HG03446, HG02881, NA18523, HG02332, HG02896, HG01896, HG02807, NA18865, HG02982, NA19310, HG03304, HG03473, HG03103, HG03279, NA19474, HG03351, NA19102, HG02679, NA19121, NA19316, HG02284, HG03439
Known GenesGRIP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629802
Frequency
Sample Size2504
Observed Gain0
Observed Loss58
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer