A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659380



Internal ID9578799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:8079311..8080772hg38UCSC Ensembl
chr7:8118941..8120402hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg381462
hg191462
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5937750, essv5483962, essv5703562, essv5397354, essv6506512, essv5778553, essv6456093, essv5741723, essv6194671, essv6100599, essv6213767, essv5878039
SamplesNA18523, NA19455, NA19449, NA18489, NA19652, NA19374, NA18486, NA19901, NA19446, NA19452, NA19381, NA19468
Known GenesGLCCI1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659380
Frequency
Sample Size1151
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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