A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656975



Internal ID9576394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:36480897..36481125hg38UCSC Ensembl
chr18:34060860..34061088hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg38229
hg19229
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6363044, essv6159997, essv5654752, essv5994520, essv5791595, essv5921272, essv6266417, essv5447161, essv5743073, essv6060787, essv6467723, essv6497844, essv5699747, essv6099729, essv6184152, essv5618828, essv5954383, essv6123704
SamplesNA18924, NA19704, NA20346, NA19190, NA19130, NA18499, NA18523, NA18858, NA19436, NA19256, NA19818, NA19759, NA20334, NA19713, NA19102, NA19116, NA18522, NA18487
Known GenesFHOD3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656975
Frequency
Sample Size1151
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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