A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670540



Internal ID9936645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:168584771..168584919hg38UCSC Ensembl
chr1:168554009..168554157hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg38149
hg19149
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5818338, essv6368840, essv5486701, essv5448141, essv5947703, essv6395410, essv5856419, essv6022841, essv5663118, essv6020423, essv5840611
SamplesHG01356, NA18947, NA18602, NA18563, NA18944, HG00589, HG01365, HG00464, NA18536, NA18542, NA18543
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670540
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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