A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678450



Internal ID9944555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:205136996..205139108hg38UCSC Ensembl
chr1:205106124..205108236hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg382113
hg192113
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv92e199
Supporting Variantsessv6029254, essv5718135, essv6579430, essv5751314, essv5959212, essv6102877, essv5456709
SamplesNA19457, NA20127, NA19449, NA18853, NA19108, NA20281, HG01191
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678450
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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