A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665144



Internal ID9931249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:2972797..2973862hg38UCSC Ensembl
chr3:3014481..3015546hg19UCSC Ensembl
Cytoband3p26.2
Allele length
AssemblyAllele length
hg381066
hg191066
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6112848, essv6140519, essv6538693, essv6559048, essv5501401, essv6192529, essv5569723, essv5714933, essv5767322, essv5741875, essv5728128, essv6592991, essv6075977, essv6345961, essv5647122
SamplesNA19466, NA19332, NA19819, NA19393, NA19381, NA19382, NA12044, NA19189, NA19462, NA19395, HG01204, NA19436, NA19834, NA19712, NA19398
Known GenesCNTN4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665144
Frequency
Sample Size1151
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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