A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657407



Internal ID9923512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68507498..68625204hg38UCSC Ensembl
Outerchr4:68506977..68625574hg38UCSC Ensembl
Innerchr4:69373216..69490922hg19UCSC Ensembl
Outerchr4:69372695..69491292hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38118598
hg19118598
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv951e199
Supporting Variantsessv6170269, essv5456124, essv6112876, essv5927661, essv5987622, essv6152700, essv6533796, essv6303280, essv6298168, essv6260053, essv6444380, essv5476061, essv6381201, essv6287696, essv5964989, essv6268831, essv6165533, essv6405864, essv6244386, essv6220313, essv6153267, essv5426328, essv5810597, essv6553047, essv5849720, essv5476176, essv6541855, essv6582213, essv6230175, essv5451036, essv5726512, essv6295869, essv5492355, essv5532876, essv5583785, essv6167071, essv6165477, essv5496752, essv6110825, essv5722608, essv6060065, essv6116620, essv5623257, essv6384055, essv6490493, essv6118504, essv5852280, essv6420440, essv5678408, essv5986534, essv6083448, essv6591423, essv5815860, essv6009611, essv5867323, essv6051601, essv6569219, essv6442669, essv5572694, essv5525485, essv5619436, essv5443655, essv6412016, essv5440245, essv6359346, essv6531827, essv5959330, essv5508548, essv5723628, essv5477975, essv5426102, essv6381011, essv5544989, essv6581504, essv5656085, essv5797163, essv6116790, essv5675099, essv5963861, essv5426954, essv6509840, essv6272588, essv6412322, essv6145119, essv5653951, essv5579694, essv5863467, essv6473542, essv5607139, essv6210210, essv6080796, essv5809970, essv6587018, essv6388550, essv6487375, essv6445688, essv6183672, essv6415674, essv6243687, essv6246706, essv6368457, essv5723843, essv6366146, essv6430518, essv6119949, essv6588112, essv6025516, essv6325284, essv5971746, essv5610671, essv5833315, essv6227711, essv5728765, essv6047211, essv6376505, essv5885699, essv5480914, essv6335092, essv6079545, essv5985769, essv6241035
SamplesHG00189, HG00361, NA18592, HG00187, NA18565, NA18561, NA18599, HG00315, NA18603, HG00181, NA18545, NA18596, NA18530, NA18616, NA18526, NA18633, NA18602, NA18627, HG00271, NA18563, NA18597, NA18595, NA18635, NA18567, NA18619, NA18558, HG00330, NA18547, NA18618, NA18574, HG00346, NA18582, NA18571, HG00369, HG00270, HG00185, NA18611, HG00281, HG00277, NA18560, NA18617, NA18557, HG00326, HG00323, NA18539, NA18638, NA18614, HG00188, NA18544, NA18605, NA18613, NA18538, HG00266, HG00183, HG00176, HG00282, HG00328, HG00190, NA18637, HG00275, NA18579, NA18572, NA18534, NA18630, NA18548, NA18537, NA18566, HG00324, HG00284, NA18573, HG00273, NA18626, HG00373, NA18532, NA18553, NA18555, HG00276, NA18536, NA18570, NA18593, NA18541, NA18576, NA18546, NA18608, NA18632, NA18542, NA18535, HG00336, HG00285, NA18543, NA18559, NA18564, HG00366, HG00353, NA18628, HG00375, HG00357, HG00319, NA18615, HG00339, HG00269, NA18631, HG00329, HG00342, HG00267, NA18636, NA18609, HG00310, HG00280, NA18552, HG00171, NA18624, HG00345, NA18623, NA18612, NA18549, HG00180, NA18622, NA18562, NA18577, NA18620
Known GenesUGT2B17
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657407
Frequency
Sample Size1151
Observed Gain0
Observed Loss121
Observed Complex0
Frequencyn/a


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