A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672475



Internal ID9938580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:7585694..7588372hg38UCSC Ensembl
chr1:7645754..7648432hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg382679
hg192679
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6057115, essv6336025, essv5833909, essv5955720, essv6269373
SamplesNA19399, NA19374, NA19916, NA19383, NA19093
Known GenesCAMTA1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672475
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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