A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664033



Internal ID9930138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:9205225..9206934hg38UCSC Ensembl
chr18:9205223..9206932hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg381710
hg191710
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5873600, essv6364794
SamplesNA20525, HG00256
Known GenesANKRD12
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664033
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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