A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675423



Internal ID9941528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:118939575..118940996hg38UCSC Ensembl
chr1:119482198..119483619hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg381422
hg191422
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6052956, essv5778464, essv6521586, essv5615238, essv6318543, essv5690431, essv5421675, essv6035423, essv5846061, essv5601836, essv5996909, essv5706716
SamplesNA19204, NA18861, NA18508, NA19443, NA18498, NA19189, NA19921, NA19982, NA19225, NA19469, NA19470, NA19818
Known GenesTBX15
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675423
Frequency
Sample Size1151
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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