A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3338404



Internal ID14838674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:54021403..54021413hg38UCSC Ensembl
Innerchr20:54021395..54021421hg38UCSC Ensembl
Outerchr20:54021382..54021431hg38UCSC Ensembl
chr20:52637942..52637952hg19UCSC Ensembl
Innerchr20:52637934..52637960hg19UCSC Ensembl
Outerchr20:52637921..52637970hg19UCSC Ensembl
chr20:52071349..52071359hg18UCSC Ensembl
Innerchr20:52071367..52071341hg18UCSC Ensembl
Outerchr20:52071328..52071377hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8976016, essv8975993, essv8976027, essv8975995, essv8976024, essv8976028, essv8976001, essv8976039, essv8976038, essv8976005, essv8976034, essv8976033, essv8976031, essv8976007, essv8975998, essv8976011, essv8976006, essv8976030, essv8976041, essv8976009, essv8976036, essv8976025, essv8976040, essv8976018, essv8976022, essv8976017, essv8975994, essv8976023, essv8976010, essv8976002, essv8976035, essv8976000, essv8976021, essv8975996, essv8976032, essv8976012, essv8975997, essv8976013, essv8975999, essv8976008, essv8976020, essv8976019, essv8976014, essv8976029
SamplesNA12043, NA12249, NA18861, NA12750, NA07037, NA18871, NA18561, NA18523, NA11920, NA18501, NA19093, NA18526, NA10847, NA18948, NA11931, NA18573, NA12776, NA18508, NA11994, NA18576, NA18960, NA07357, NA18592, NA18609, NA11894, NA11995, NA12144, NA12751, NA12006, NA12716, NA19129, NA18572, NA19102, NA18564, NA10851, NA18552, NA18909, NA12156, NA11992, NA18944, NA18571, NA12045, NA12717, NA18980
Known GenesBCAS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3338404
Frequency
Sample Size185
Observed Gain44
Observed Loss0
Observed Complex0
Frequencyn/a


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