A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672516



Internal ID9938621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:123913683..123919675hg38UCSC Ensembl
chr9:126675962..126681954hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg385993
hg195993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6304922, essv5666300, essv6089023, essv5896946, essv5607940, essv5790904, essv5545459, essv5944399
SamplesNA11920, NA20531, HG01353, HG01384, HG00239, HG00740, NA12043, NA20815
Known GenesDENND1A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672516
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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