A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628233



Internal ID7015057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:409172..409961hg38UCSC Ensembl
Innerchr12:409172..409961hg38UCSC Ensembl
Outerchr12:408787..410306hg38UCSC Ensembl
chr12:518338..519127hg19UCSC Ensembl
Innerchr12:518338..519127hg19UCSC Ensembl
Outerchr12:517953..519472hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38790
hg19790
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14329500, essv14329493, essv14329519, essv14329484, essv14329504, essv14329502, essv14329528, essv14329498, essv14329517, essv14329531, essv14329497, essv14329491, essv14329509, essv14329494, essv14329507, essv14329506, essv14329532, essv14329489, essv14329511, essv14329508, essv14329521, essv14329485, essv14329499, essv14329510, essv14329495, essv14329515, essv14329503, essv14329513, essv14329501, essv14329496, essv14329526, essv14329505, essv14329533, essv14329488, essv14329527, essv14329516, essv14329522, essv14329490, essv14329525, essv14329514, essv14329486, essv14329487, essv14329520, essv14329523, essv14329492, essv14329530, essv14329518, essv14329524, essv14329529, essv14329512
SamplesNA19703, HG03378, NA18508, HG03163, HG02702, HG03175, NA19350, HG03298, HG03280, NA18878, HG03518, HG03193, HG02952, HG03246, HG03105, HG02489, HG02143, NA20278, NA19383, HG03268, NA18868, NA19235, NA19207, HG03195, HG02420, NA19707, NA19184, NA19327, NA19236, HG03457, HG03159, HG01889, HG02555, HG02429, HG03136, HG01182, NA19257, NA20296, HG02807, NA19149, HG02759, HG02546, HG01894, HG01108, HG03557, NA19376, HG02851, HG02808, HG02629, HG03129
Known GenesCCDC77
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628233
Frequency
Sample Size2504
Observed Gain0
Observed Loss50
Observed Complex0
Frequencyn/a


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