A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667580



Internal ID9586999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:106712515..106712655hg38UCSC Ensembl
chr11:106583241..106583381hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg38141
hg19141
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5912184, essv5976518, essv6451695, essv6377117, essv6597107, essv6236441, essv5772968, essv5938314, essv5606443, essv6493578, essv5403121, essv5872417, essv5533821, essv5845785, essv5847089, essv6336350, essv6179533, essv6482006, essv5503830, essv5750658, essv6037833, essv6292415, essv5746077, essv5863685, essv6562334, essv6417825, essv5919775, essv5889319, essv6577254, essv6306511, essv5616685, essv6077542, essv6159498, essv6357081, essv5955588, essv6131075, essv6487413, essv6059090, essv6068944, essv5686203, essv5707328, essv6400374, essv5416625, essv6319918, essv6591794, essv6151917, essv5424458
SamplesNA19321, NA18534, HG00437, HG00596, HG00707, NA19670, HG00614, HG01051, NA18947, NA18608, HG00683, NA19257, HG00479, HG00472, NA19390, HG00583, NA19068, NA19900, NA18638, NA19429, NA18959, NA19256, NA18637, NA18593, NA19000, NA19213, HG00436, NA19395, NA18537, NA18633, HG00629, HG00501, HG00478, HG00534, NA19707, NA19462, HG00589, NA18543, HG00650, HG00608, HG00654, HG00708, HG00690, NA18549, HG00671, NA19065, HG00531
Known GenesGUCY1A2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667580
Frequency
Sample Size1151
Observed Gain0
Observed Loss47
Observed Complex0
Frequencyn/a


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