A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665927



Internal ID9585346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:30439232..30445298hg38UCSC Ensembl
chr7:30478848..30484914hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg386067
hg196067
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6153453, essv6194716, essv5595477, essv5400185, essv6361158, essv6407168, essv6072121, essv6594061, essv5488266, essv6208489, essv5604994, essv6061660, essv5996764, essv5821377, essv5494324, essv5456770, essv6432451, essv5864674, essv6479003, essv6466214, essv6441389, essv6322901, essv5746832, essv5715580, essv5405159, essv5930080, essv5718240, essv5622983, essv6582144, essv6200117, essv6022393, essv5552840, essv6247756, essv5862092, essv6408010, essv5446162, essv5501035, essv6183102, essv6029822, essv5550245, essv6371366, essv6399576, essv6430782, essv6496833, essv6488276, essv6549586, essv5400334, essv5484277, essv5604608, essv6102984, essv5488128, essv5504853, essv5451678, essv5448888, essv6393747
SamplesNA19701, NA19703, NA19397, NA19704, NA19393, NA19377, NA19190, NA19920, NA19107, NA19396, NA19379, NA19319, NA19130, NA18868, NA20340, NA19901, NA20342, NA19456, NA19445, NA18908, NA19985, HG01124, NA19707, NA18934, NA19347, NA18516, NA19982, NA18499, NA19099, NA19225, NA18523, NA18858, HG01107, NA20276, NA19435, NA19428, NA19467, HG01108, NA19328, NA19248, NA19438, NA19472, NA19223, NA19713, NA19474, NA19093, NA19102, NA19900, NA19430, NA19312, NA19463, NA18511, NA18522, NA19429, NA18487
Known GenesNOD1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665927
Frequency
Sample Size1151
Observed Gain0
Observed Loss55
Observed Complex0
Frequencyn/a


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