A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661705



Internal ID9927810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:227046239..227047386hg38UCSC Ensembl
chr2:227910955..227912102hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg381148
hg191148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6075481, essv5606732, essv6520198, essv5784962, essv5943128
SamplesNA19108, NA19434, NA19380, NA19900, NA18511
Known GenesCOL4A4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661705
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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