A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659319



Internal ID9925424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:17289726..17296682hg38UCSC Ensembl
Outerchr22:17289255..17297102hg38UCSC Ensembl
Innerchr22:17770616..17777572hg19UCSC Ensembl
Outerchr22:17770145..17777992hg19UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg387848
hg197848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv815e199
Supporting Variantsessv5624561, essv6411909, essv5745132, essv5436563, essv5957185, essv5933811, essv5790895, essv6465466, essv5571401, essv6088989, essv5945970, essv6500796, essv5824631, essv6251326, essv6376203, essv5812567, essv5786510, essv5869778, essv6553845, essv6063373, essv5605059, essv6375815, essv6557289, essv6555977, essv6500504, essv6557789, essv6456803, essv6098194, essv6248265, essv5583876, essv5414309, essv5443601, essv6404829, essv5919495, essv5841393, essv5723104, essv5822182, essv6179924, essv5510312, essv5628877, essv5730938, essv6158139, essv5459661, essv5672010, essv5625297, essv6078992, essv5843874, essv5646560, essv5937194, essv5858042, essv5575135, essv6065048, essv6476623, essv6447930, essv5803432, essv5940689, essv5769602, essv5865418, essv6144963, essv5452735, essv5837697, essv5719646, essv5604121, essv6191808, essv6051699, essv5466827, essv5826196, essv5535761, essv5994761, essv6173034, essv6259775, essv6168866, essv5709663, essv6470705, essv6030171, essv6522981, essv5732828, essv6242315, essv6533033, essv6421293, essv6438552
SamplesNA20588, NA12383, NA20761, NA12717, NA11830, NA20529, NA20543, NA20766, NA11995, NA20783, NA12414, NA11920, NA20531, NA11933, NA20532, NA12004, NA12340, NA12058, NA20517, NA20507, NA20771, NA12750, NA12399, NA07357, NA20806, NA12341, NA20589, NA20586, NA20769, NA07048, NA12283, NA20768, NA12287, NA20759, NA12282, NA20518, NA20775, NA12156, NA06984, NA11994, NA20811, NA12828, NA20533, NA20753, NA11993, NA20800, NA20524, NA12342, NA20505, NA20810, NA20506, NA11919, NA11894, NA12249, NA06989, NA12827, NA20542, NA12546, NA20765, NA12043, NA20526, NA20773, NA20522, NA20801, NA12775, NA20815, NA20520, NA07051, NA20530, NA20792, NA20778, NA20803, NA07037, NA20510, NA12830, NA11843, NA20503, NA07056, NA20585, NA12154, NA12776
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659319
Frequency
Sample Size1151
Observed Gain0
Observed Loss81
Observed Complex0
Frequencyn/a


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