A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666180



Internal ID9932285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:58548239..58551445hg38UCSC Ensembl
Outerchr3:58547868..58551815hg38UCSC Ensembl
Innerchr3:58533966..58537172hg19UCSC Ensembl
Outerchr3:58533595..58537542hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg383948
hg193948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5645879, essv5502623, essv6139616, essv6080020, essv5620124, essv6159915, essv5454954, essv6530081, essv6155868, essv5849811, essv6319930, essv6371059, essv5797755, essv6288632, essv5766489, essv5443571
SamplesNA19700, NA19909, NA19920, NA19916, NA20287, NA19904, NA20291, NA19917, NA19901, NA19707, NA19982, NA19625, NA19834, NA19712, NA20281, NA19711
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666180
Frequency
Sample Size1151
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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