A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678355



Internal ID9944460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:53836504..53836969hg38UCSC Ensembl
chr20:52453043..52453508hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg38466
hg19466
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv796e199
Supporting Variantsessv6091878, essv6220949, essv5533283, essv5709048, essv5669702, essv6252130, essv6348924, essv5571985, essv5782282, essv6248922, essv6449107, essv5909568, essv6461697, essv6059080, essv6082692, essv5899499, essv5435297, essv6061582, essv6184683, essv6013445, essv5486784, essv6187662, essv5651272, essv6209856, essv6366820, essv6581513, essv5737644, essv5960536, essv5789422, essv6228287, essv6371592, essv5605614, essv5796416, essv6113717, essv5514018, essv5512076, essv6373150, essv6128309, essv6370740, essv5793513, essv6066306, essv5629017, essv6524147, essv6384945, essv5577137
SamplesHG00114, NA18924, HG00151, NA12045, NA19359, NA19684, NA19377, NA20346, NA07346, NA19374, HG00641, HG00138, NA19373, NA18489, NA19916, HG01365, HG00281, HG00139, NA12282, HG01067, NA19372, NA18520, NA20127, NA18867, HG01171, NA20521, NA12718, HG01073, NA19469, NA19395, HG01107, NA19436, NA20801, NA19712, NA19473, NA07051, NA19439, NA19324, HG00256, NA20334, NA19713, NA19129, NA07000, NA19431, HG01516
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678355
Frequency
Sample Size1151
Observed Gain0
Observed Loss45
Observed Complex0
Frequencyn/a


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