A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677203



Internal ID9943308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:113617605..113617908hg38UCSC Ensembl
chr4:114538761..114539064hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38304
hg19304
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6333008, essv6508034, essv6434105, essv5491199
SamplesHG00346, NA12283, NA19720, HG01073
Known GenesCAMK2D
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677203
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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