A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666335



Internal ID9932440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:80193117..80195223hg38UCSC Ensembl
OuterchrX:80192746..80195593hg38UCSC Ensembl
InnerchrX:79448616..79450722hg19UCSC Ensembl
OuterchrX:79448245..79451092hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg382848
hg192848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5967324, essv5805857, essv6157335, essv5629658, essv6013570, essv6486289, essv5561145, essv6594841, essv6466095, essv5744386, essv6136987, essv6217740, essv6014684, essv5641998, essv5784424, essv6153192, essv5555708, essv6154426, essv6021352, essv5693725, essv5624323, essv6097114, essv5862522, essv5948562, essv5717874, essv5884260, essv5662648, essv6073686, essv6412624, essv6108492, essv5935291, essv5862718, essv5870785, essv6346044, essv5992004, essv5592902, essv5613505, essv6338836, essv5736008, essv6118903, essv5985765, essv6222773, essv6068837, essv5661681, essv5723603, essv6059608, essv6053475, essv5925214, essv5703910, essv5797589, essv5573948, essv5777718, essv5855640, essv5547504, essv6273059, essv6134482
SamplesNA18621, NA18561, NA18599, NA18603, NA18545, NA18596, NA18530, NA18606, NA18616, NA18633, NA18627, NA18563, NA18597, NA18595, NA18635, NA18567, NA18619, NA18558, NA18618, NA18574, NA18611, NA18617, NA18557, NA18539, NA18638, NA18614, NA18544, NA18605, NA18613, NA18637, NA18572, NA18534, NA18630, NA18548, NA18626, NA18553, NA18536, NA18576, NA18546, NA18608, NA18632, NA18543, NA18559, NA18628, NA18615, NA18610, NA18631, NA18636, NA18609, NA18624, NA18623, NA18612, NA18549, NA18622, NA18562, NA18620
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666335
Frequency
Sample Size1151
Observed Gain0
Observed Loss56
Observed Complex0
Frequencyn/a


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