A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669938



Internal ID9936043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:16674001..16947855hg38UCSC Ensembl
chr8:16531510..16805364hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38273855
hg19273855
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5573662, essv5629625, essv5688961, essv5625587, essv6178605, essv5453404, essv6257388, essv5417664, essv5983711, essv5950355, essv6286300, essv6522528, essv5753753, essv5682837, essv5506744, essv5521782, essv6530262, essv5579286, essv6272001, essv6115966, essv5715462, essv5906387, essv6205649, essv5408579, essv5476335, essv6489937, essv5638019, essv5741427, essv6087665, essv6397532
SamplesNA18599, HG00699, NA18616, HG00654, HG00272, NA18595, HG00369, NA19681, HG00590, HG01134, HG00534, NA18617, HG01048, HG01124, HG00328, NA19077, NA19461, NA20581, NA19072, HG00357, HG00607, NA19078, HG00614, HG01491, NA18631, NA19463, NA18549, NA19074, HG00581, NA19431
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669938
Frequency
Sample Size1151
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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