A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658715



Internal ID9578134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:83063272..83063803hg38UCSC Ensembl
chr4:83984425..83984956hg19UCSC Ensembl
Cytoband4q21.22
Allele length
AssemblyAllele length
hg38532
hg19532
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6322907, essv6031524, essv6535029, essv6129340, essv5612858, essv5471558, essv5496761, essv5425974, essv6147750, essv6594217, essv5937505, essv6473796
SamplesNA18510, NA19373, NA18868, NA18867, NA18910, NA18871, NA19099, NA18909, NA19428, HG01108, NA19900, NA19463
Known GenesCOPS4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658715
Frequency
Sample Size1151
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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