A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6572803



Internal ID9342753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68563633..68666048hg38UCSC Ensembl
Outerchr4:68563599..68666083hg38UCSC Ensembl
Innerchr4:69429351..69531766hg19UCSC Ensembl
Outerchr4:69429317..69531801hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38102485
hg19102485
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2669141
Supporting Variants
SamplesNA18539
Known GenesUGT2B15, UGT2B17
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6572803
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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