A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677526



Internal ID9596945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:2385223..2386302hg38UCSC Ensembl
chr3:2426907..2427986hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg381080
hg191080
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6306906, essv6554509, essv6566677, essv5620267, essv6133129, essv5522544, essv5431286, essv5795177, essv6231648
SamplesNA18561, HG00171, HG00614, NA18573, NA18949, NA19054, NA18486, NA18988, NA19779
Known GenesCNTN4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677526
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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