A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660147



Internal ID9926252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:53699685..53701615hg38UCSC Ensembl
chr4:54565852..54567782hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg381931
hg191931
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6305170, essv5708370, essv5671724, essv5406697, essv6569570, essv5609895, essv6051383, essv6057801, essv5713578, essv5540050, essv6138752, essv5631295, essv6016046, essv6586961, essv6318547, essv6259657, essv6310096, essv5980065, essv5921749, essv6147679, essv6508870, essv5944692, essv6308108, essv6408135, essv5453452, essv6285700, essv5932986, essv5829797, essv5766396, essv5644970, essv6013687, essv6597774, essv5600172, essv5742938, essv5578052, essv6303900, essv6458506, essv5888035, essv5815331, essv6595178, essv6229875, essv6171623, essv5848770, essv6351447, essv6169534, essv5863900, essv5419831, essv6201176, essv6535592, essv6201244, essv5886473, essv6261539, essv5600729, essv6404145, essv6209622, essv6026359, essv6031586, essv5451755, essv6342451, essv6300760, essv5802989, essv5548189, essv6572078, essv5886564, essv6408457, essv6123432, essv6038516, essv6270483, essv5810502, essv5866841, essv5688320, essv5561883, essv6513883, essv6168183
SamplesNA20588, HG00114, HG00142, NA20531, HG01066, NA20294, NA19443, HG01051, NA19446, NA19396, NA19381, HG01070, NA19382, HG01351, NA19916, HG00736, HG00346, NA20287, NA19384, NA20291, NA19404, NA12761, NA11930, HG01134, HG01067, NA19719, NA19372, NA19371, NA19385, NA19901, HG00118, HG00637, HG01048, NA20533, NA20127, NA18867, HG00183, NA19707, NA19462, NA18933, NA19391, NA19455, HG00740, HG01047, NA20581, NA18856, NA19452, NA19469, NA12546, HG01075, NA20765, NA19401, NA19375, HG00258, NA20522, NA19652, NA19440, NA19390, HG00265, NA19256, HG00136, NA12046, NA19439, NA19470, NA19360, HG00269, NA19468, HG01055, NA19711, HG00343, NA20528, NA19312, NA18511, NA18487
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660147
Frequency
Sample Size1151
Observed Gain0
Observed Loss74
Observed Complex0
Frequencyn/a


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