A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673114



Internal ID9939219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21558138..21568141hg38UCSC Ensembl
chr14:22026269..22036272hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3810004
hg1910004
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6394158, essv5660627, essv5636499, essv5515500, essv5457228, essv6382503, essv6546408, essv6060254, essv5958221, essv5854545, essv5865431, essv5489059, essv6094997, essv5564056, essv5917951, essv5896605, essv5775504, essv5684466, essv5842472, essv6364562, essv5695002, essv6567575, essv5739625, essv6240945
SamplesNA19397, NA19396, NA19319, NA19448, NA18923, NA19198, NA19130, NA20340, NA19371, NA19385, NA19456, NA18907, NA19338, NA18523, NA19318, HG01551, NA19435, NA19331, NA20341, NA19376, NA19328, NA19474, NA19711, NA19213
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673114
Frequency
Sample Size1151
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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