A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667224



Internal ID9933329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:109464351..109468605hg38UCSC Ensembl
Outerchr4:109464314..109468655hg38UCSC Ensembl
Innerchr4:110385507..110389761hg19UCSC Ensembl
Outerchr4:110385470..110389811hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg384342
hg194342
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6497889
SamplesHG00693
Known GenesSEC24B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667224
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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