A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676669



Internal ID9596088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:201690091..201690370hg38UCSC Ensembl
chr1:201659219..201659498hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5566457, essv6134713, essv5782506, essv6559147, essv5864907, essv5721727, essv6101885
SamplesHG01055, HG01342, HG01492, NA19682, NA19716, NA19664, NA18544
Known GenesIPO9-AS1, NAV1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676669
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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