A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667161



Internal ID9933266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:55400600..55402953hg38UCSC Ensembl
chr4:56266767..56269120hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg382354
hg192354
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6447967, essv6305079, essv5806667, essv5639620, essv5690299, essv5866985, essv6103121, essv6229481, essv5526243, essv5956525, essv6123199, essv6517119, essv5571171, essv5998503, essv5411324, essv5786907, essv5800260, essv6166774, essv5553647, essv5755287, essv6554362, essv6061091, essv6084080, essv5454605, essv6418477, essv5621763, essv5909877, essv5594643, essv5551155
SamplesNA19394, NA19355, NA19443, NA19374, NA19373, NA19382, NA19315, NA19448, NA19457, NA19384, NA19383, NA19235, NA19471, NA18908, NA19247, NA19982, NA18499, NA19469, NA19395, NA19834, NA19321, NA19434, NA19444, NA19470, NA19324, NA19785, NA19468, NA19711, NA19213
Known GenesTMEM165
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667161
Frequency
Sample Size1151
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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