A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661000



Internal ID9580419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:3181224..3181714hg38UCSC Ensembl
Outerchr18:3181185..3181771hg38UCSC Ensembl
Innerchr18:3181222..3181712hg19UCSC Ensembl
Outerchr18:3181183..3181769hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38587
hg19587
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5994912, essv6221115, essv6181660, essv5644533, essv5579770, essv6554999, essv5889603, essv5580895, essv6028176, essv6536156
SamplesNA18605, NA18545, NA18573, NA18608, NA18959, NA12716, NA18572, NA12890, NA18577, HG00327
Known GenesMYOM1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661000
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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