A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677546



Internal ID9596965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:139677683..139677957hg38UCSC Ensembl
chr8:140689926..140690200hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5923834, essv5956806, essv6203832, essv5460848, essv6526317, essv6266941, essv6578922, essv6287015, essv6158069, essv6029624, essv6553005, essv6224353, essv5899197, essv5602849, essv6162516, essv5557836, essv6532181, essv5774294, essv6328769, essv5801392, essv5452986, essv6212249, essv5909403, essv6347927, essv5736373
SamplesHG01440, NA19404, HG01055, NA18501, NA19093, NA18511, NA18517, NA19920, NA18507, NA19108, NA19147, NA19383, HG01061, NA19398, NA19700, NA19704, NA18858, NA19909, NA18909, NA19391, NA19394, NA20287, NA19399, NA19130, NA19385
Known GenesKCNK9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677546
Frequency
Sample Size1151
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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