A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669194



Internal ID9935299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:124568446..124569076hg38UCSC Ensembl
chr9:127330725..127331355hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38631
hg19631
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6481311, essv5424443, essv5898201, essv6341006, essv5694202, essv6328096, essv6369173, essv5453905, essv5798209, essv5793462, essv6316956, essv6451925, essv5873985, essv6474379, essv6237824, essv6171342, essv5514130, essv5657620, essv6331705, essv5846921, essv6551241
SamplesNA18502, NA19700, HG01462, NA19204, NA18917, NA20346, NA19005, NA19131, NA19130, NA18868, NA19207, NA19210, NA18516, NA18871, NA19099, NA19257, NA19225, NA19469, NA19835, NA18522, NA12776
Known GenesNR6A1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669194
Frequency
Sample Size1151
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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