A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678409



Internal ID9944514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:41782067..41782388hg38UCSC Ensembl
chr6:41749805..41750126hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5897671, essv5631129, essv5619659, essv5566046, essv5831562, essv6030141, essv6144990, essv6487874, essv6135666, essv6021921, essv6308181, essv5535515, essv6325239, essv5678296, essv6382145, essv5686288, essv5835706, essv5546814, essv5851163, essv6033910, essv5797834, essv6478920, essv5631252, essv6023293, essv6200391
SamplesNA11830, NA19058, HG00536, NA19397, NA12843, NA19443, NA12341, NA19396, NA19319, HG00173, NA18977, NA19901, NA19462, HG00584, NA12718, NA18536, NA18608, NA20815, NA19444, NA19380, NA20785, NA20803, NA19085, NA12347, NA19468
Known GenesPRICKLE4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678409
Frequency
Sample Size1151
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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