A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663397



Internal ID2896484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:36484957..36485319hg38UCSC Ensembl
chr21:37857255..37857617hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg38363
hg19363
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6476053, essv6328313, essv5785387, essv6298115, essv6398253, essv5712517, essv5671252, essv5998088, essv5500188, essv6273514, essv5688736, essv5747893, essv5925597, essv5703969, essv5923907, essv6409704, essv5530743, essv6256408, essv6459223, essv5663803
SamplesHG01441, HG01359, NA20503, HG00139, HG00111, NA19648, NA20533, NA19684, HG00159, NA19657, NA19731, HG01073, HG01351, NA18613, NA19720, NA20513, HG00142, HG01489, NA19661, HG00136
Known GenesCLDN14
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663397
Frequency
Sample Size1151
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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