A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656771



Internal ID9576190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30066139..30066776hg38UCSC Ensembl
chr8:29923655..29924292hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38638
hg19638
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6434784, essv6396533, essv5820380, essv5746596, essv5806598, essv6273429, essv5596139
SamplesNA07346, NA12891, NA11932, NA11831, NA12046, NA12830, NA20528
Known GenesMIR548O2, TMEM66
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656771
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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