A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668721



Internal ID9934826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:119470227..119471005hg38UCSC Ensembl
chr1:120012850..120013628hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg38779
hg19779
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6157647, essv5690432, essv5864370, essv6495212, essv5620453, essv5547505, essv6370550, essv6531793, essv6419488, essv6230379, essv6072282, essv5922418, essv5411008, essv5433129, essv5669374, essv6154192, essv6111908, essv6037234, essv6438937, essv5942117, essv6328676, essv6588874, essv6519837, essv6383845, essv5737261, essv6197607, essv6346193, essv5909236, essv6386664, essv6338494, essv6109796, essv5526462, essv6492052, essv5832934, essv5976752, essv6185677, essv5439640, essv6156709, essv6047437, essv5593841, essv6238979, essv5640336, essv6262420, essv5583423, essv6071020, essv6458911, essv5931175, essv6355225, essv6266496, essv5505320, essv5544905, essv5491236, essv6147461, essv5893277, essv6356403, essv5856655, essv5921783, essv5799883, essv6362844, essv5851050, essv5553329, essv6099190, essv5425079, essv5963815, essv5648211, essv5897765, essv5704943, essv6450972, essv6258726, essv6096038, essv6353071, essv5886924, essv5489214, essv5917590, essv5887585, essv5415250, essv6381603, essv6078724, essv5533180, essv6361022, essv5921274, essv6136707, essv6478710, essv5421153, essv5601764, essv5665177, essv5461939, essv6521781, essv6027421, essv6009485, essv5825988, essv5600898, essv6567669, essv5622596, essv6556363, essv6384024, essv5789875, essv6294577, essv5638296, essv5881879, essv5736957
SamplesNA19701, NA19700, NA18924, NA19909, NA19466, NA18508, NA19914, NA18561, NA19704, NA18507, NA18999, NA19393, NA18510, HG00693, HG00663, NA19446, NA19379, NA19005, NA18550, NA18519, NA18489, HG00634, NA18960, NA19313, NA19138, NA18498, NA20287, NA18964, NA19720, NA19383, NA19719, NA19235, NA19172, NA19471, HG00705, NA18520, HG00530, NA19451, NA19247, NA18613, NA19437, HG00443, NA19707, NA19347, NA18933, HG00577, HG00701, NA19391, NA18991, NA19717, NA19982, HG00584, HG00583, NA18871, HG00619, NA19776, NA19114, NA18856, NA18853, NA19099, NA18555, NA19452, NA19225, NA19318, NA19395, NA19625, NA18634, HG01107, NA19436, NA18546, NA19401, NA19652, NA18542, NA19440, NA19390, NA19108, NA19712, NA19334, HG00607, NA19311, NA19083, NA20281, HG01489, NA19818, HG00614, HG00513, NA18631, NA19468, NA19474, NA19093, NA18636, NA19102, NA19116, NA19780, NA19711, HG00595, NA18511, NA18612, NA19429, NA19431, NA19676
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668721
Frequency
Sample Size1151
Observed Gain0
Observed Loss101
Observed Complex0
Frequencyn/a


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