A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670015



Internal ID9589434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:2427648..2428008hg38UCSC Ensembl
chr3:2469332..2469692hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38361
hg19361
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5796474, essv5446228, essv6300865, essv5945672, essv5960117, essv5693078, essv6564213
SamplesNA19455, NA18516, NA19461, HG01170, NA19332, NA19382, NA19376
Known GenesCNTN4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670015
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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