A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659003



Internal ID9578422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:112494049..112495316hg38UCSC Ensembl
chr1:113036671..113037938hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg381268
hg191268
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5796632, essv6247952, essv5633783, essv6520869, essv5530662, essv5753759, essv6439499, essv5997184, essv6332560, essv6227552, essv6335923, essv5688609, essv5397642, essv5818474, essv6579283, essv6460409
SamplesNA19436, NA19712, NA19469, NA19701, NA19467, NA19917, NA19440, NA19256, NA19247, NA19360, NA19380, NA20126, NA18867, NA19655, NA19468, HG01198
Known GenesWNT2B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659003
Frequency
Sample Size1151
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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