A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672048



Internal ID9591467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:71021492..71024090hg38UCSC Ensembl
chr1:71487175..71489773hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg382599
hg192599
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6571761, essv6579556, essv6230137, essv5645207, essv6303096, essv6456172, essv6452828, essv6213029
SamplesNA18520, NA19819, NA18874, NA19701, NA19438, NA19102, NA19446, NA18853
Known GenesPTGER3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672048
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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