A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675846



Internal ID9941951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:13111300..13120043hg38UCSC Ensembl
chr1:13178772..13187516hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg388744
hg198745
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6552450, essv6451370, essv5583076, essv6508438, essv6316601, essv5831266, essv6192563, essv5598686, essv5829847, essv6055049, essv5492472, essv6212375, essv5550447, essv6220028
SamplesNA20529, NA10851, NA07357, NA18489, NA11918, HG00537, NA19099, NA19225, NA18593, NA20522, NA19108, NA19147, NA19835, NA19093
Known GenesHNRNPCP5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675846
Frequency
Sample Size1151
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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