A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672799



Internal ID9592218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:10977042..10978052hg38UCSC Ensembl
chr1:11037099..11038109hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg381011
hg191011
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5983863, essv6152639
SamplesHG00159, NA12275
Known GenesC1orf127
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672799
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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