A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6220774



Internal ID9198177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:9005282..9536802hg38UCSC Ensembl
Outerchr4:9005248..9536845hg38UCSC Ensembl
Innerchr4:9007008..9538429hg19UCSC Ensembl
Outerchr4:9006974..9538464hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38531598
hg19531491
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2667989
Supporting Variants
SamplesNA18566
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)essv6220774
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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