A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676029



Internal ID9942134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:155020866..155021910hg38UCSC Ensembl
chr1:154993342..154994386hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg381045
hg191045
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6126252, essv6578821, essv6423238, essv6125043, essv5483059, essv6370311, essv5517966, essv6217837
SamplesNA19399, NA19443, NA19374, NA19372, NA19461, NA19469, NA19834, NA19470
Known GenesDCST2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676029
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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