A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678198



Internal ID9597617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:9149586..9688745hg38UCSC Ensembl
chr4:9151312..9690369hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38539160
hg19539058
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5717297
SamplesHG01465
Known GenesDEFB131, MIR548I2, USP17L10, USP17L11, USP17L12, USP17L13, USP17L15, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, USP17L24, USP17L25, USP17L26, USP17L27, USP17L28, USP17L29, USP17L30, USP17L5, USP17L6P, USP17L9P
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678198
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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