A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv922e199



Internal ID22758695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:8954339..9545699hg38UCSC Ensembl
chr4:8956065..9547324hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38591361
hg19591260
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2667440, esv2667989, esv2660738, esv2663921, esv2677371
SamplesHG01350, HG00501, HG00108, NA18566, NA12827, HG01107, HG01190, HG00111, HG00656
Known GenesDEFB131, 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
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv922e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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