A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668525



Internal ID9587944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:33248704..33887857hg38UCSC Ensembl
chr18:30828668..31467821hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38639154
hg19639154
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5551225, essv6275818, essv5423272, essv6417008, essv6489620, essv5689386, essv6363177, essv5885484, essv6175155, essv5853869, essv5938161, essv6259455, essv6036732, essv6187607, essv5560073, essv5722250, essv6515450, essv5507326, essv6303123, essv5611446, essv5496682, essv6439559, essv5454480, essv5632995
SamplesNA07347, NA20787, HG00369, NA19004, NA18596, NA19057, NA18617, NA19088, NA19082, NA19247, HG01465, NA20536, HG01066, HG00265, HG00501, NA19332, NA19078, NA19434, HG00608, NA19063, NA19350, HG01489, NA18615, NA19058
Known GenesASXL3, CCDC178, NOL4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668525
Frequency
Sample Size1151
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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