A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5717297



Internal ID9189546
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 Flag1
Merged StatusS
Merged Variantsesv2678198
Supporting Variants
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
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5717297
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer