A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664980



Internal ID9931085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68511198..68625254hg38UCSC Ensembl
Outerchr4:68510827..68625624hg38UCSC Ensembl
Innerchr4:69376916..69490972hg19UCSC Ensembl
Outerchr4:69376545..69491342hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38114798
hg19114798
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv951e199
Supporting Variantsessv5550068, essv5631012, essv5954621, essv5932168, essv6307848, essv6330781, essv6535309, essv5513365, essv6182817, essv5869590, essv5889718, essv5742998, essv6325536, essv6397422, essv5914345, essv6229624, essv6442178, essv5638795, essv6190352, essv5623934, essv5602191, essv6433591, essv6203637, essv5713751, essv6500960, essv6489902, essv5427851, essv6464152, essv5813130, essv5633999, essv5937834, essv6504083, essv5982944, essv6004689, essv5602543, essv5555378, essv6533871, essv6089794, essv6298962, essv6194947, essv6580847, essv5978245, essv5900707, essv5784187, essv6027647, essv5744296, essv5723046, essv5399847, essv5761617, essv5559609, essv6082357, essv5491484, essv6313142, essv6160940, essv5440382
SamplesNA12383, NA12717, NA11830, NA12286, NA11995, NA11829, NA10851, NA12414, NA12843, NA11920, NA11933, NA11931, NA12045, NA12751, NA12004, NA12340, NA12058, NA12400, NA12750, NA12155, NA12413, NA12341, NA12813, NA07346, NA11992, NA07048, NA11918, NA07347, NA12761, NA12275, NA12156, NA11932, NA12889, NA12777, NA12342, NA11919, NA12829, NA12827, NA12546, NA12043, NA12716, NA12272, NA07051, NA12046, NA06986, NA06994, NA12749, NA12830, NA11843, NA07056, NA11892, NA12890, NA12154, NA12776, NA11832
Known GenesUGT2B17
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664980
Frequency
Sample Size1151
Observed Gain0
Observed Loss55
Observed Complex0
Frequencyn/a


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