A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668456



Internal ID9587875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179486459..179489161hg38UCSC Ensembl
chr1:179455594..179458296hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg382703
hg192703
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5829838, essv5819223, essv5845783, essv5451629, essv6247197, essv5789488, essv6047118, essv6353769, essv6012439, essv5428691, essv5577588, essv6182621, essv5479121, essv5973994, essv5405274, essv6114602, essv5473096, essv6328342, essv6066208, essv6300408, essv5705053, essv5913258, essv5617391, essv6380983, essv5782225, essv5826838, essv6440322, essv5692071, essv6265085, essv5821356, essv5903756, essv5950562, essv6549741, essv5749082, essv6110645, essv5901657, essv5951658, essv6112507, essv6211814, essv5409825, essv6344938, essv5603786, essv6435837, essv5445775, essv5477714, essv5855039, essv5822193, essv5526906, essv6047111, essv6241926, essv5866434, essv6514089, essv6578568, essv5603631, essv5652112, essv6389289, essv6089497, essv5507221, essv6047310, essv5857615, essv6069227, essv6071988, essv5446972, essv5450121, essv6319031, essv6379785, essv6227701, essv5504351, essv6510389, essv6423908, essv6493412, essv6337682, essv6598415, essv5542286, essv6528394, essv6270079, essv5922562, essv5753534, essv5826741, essv5943679, essv5846750, essv5502629, essv5422193, essv6333027, essv6594680, essv5940658, essv5818442, essv5675258, essv5813532, essv5854456, essv5888263, essv6440262, essv5965476, essv5954140, essv6420808, essv6533019, essv6318790, essv6365121, essv5752917, essv6552013, essv6158742, essv5779868
SamplesNA20281, NA19207, NA12154, HG00734, NA18861, NA19436, HG00252, NA12750, NA20278, NA20503, NA18871, HG00551, NA19437, NA19114, NA18874, HG01342, HG01173, HG01083, NA19209, NA19783, NA19401, NA19311, NA20508, NA19469, NA18511, NA19223, NA19319, HG01365, NA19334, HG01174, HG00148, NA19920, HG00139, NA19210, NA19379, HG00334, NA07051, HG01101, HG00366, NA19467, NA19147, NA19438, HG00266, NA20532, HG01107, HG00339, NA19914, NA19428, NA12763, NA19982, NA19239, NA19652, NA19900, NA20504, NA19396, NA12273, NA19398, HG00338, HG00125, NA19985, HG00264, NA11995, NA18916, HG00174, NA19457, HG00357, NA19190, NA19213, NA19786, NA19189, NA12892, NA20348, HG00263, NA20334, NA20344, NA19713, NA19901, NA18504, HG00249, HG00116, HG01070, NA18910, NA19711, NA19462, NA12891, NA19921, HG01190, NA20332, NA19116, NA19431, NA19818, NA20317, NA19160, NA19655, NA19916, NA12045, HG00119, NA18908, NA19381, NA19473, NA19448, NA19439
Known GenesAXDND1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668456
Frequency
Sample Size1151
Observed Gain0
Observed Loss102
Observed Complex0
Frequencyn/a


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