A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667890



Internal ID9587309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:184706866..184707377hg38UCSC Ensembl
chr4:185628020..185628531hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38512
hg19512
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5521424, essv6287846, essv5688183, essv5744734, essv6213028, essv6035675, essv5593727, essv6360008, essv5399174, essv6244396, essv5890314, essv6353744, essv6108557, essv6406804, essv6509588, essv5955615, essv5778583, essv5803949, essv5889637, essv5587874, essv6331345, essv6238337, essv6457519, essv6192095, essv6438269, essv6265337, essv6410250, essv6352047, essv6294282, essv6212750, essv6084450, essv5645675, essv5679182, essv5447583, essv5551460, essv5851704, essv5782609, essv5884981, essv5865912
SamplesNA19909, NA19359, NA19355, NA19819, NA07346, NA19374, NA19660, NA19373, NA18519, NA19448, NA19119, NA18916, NA11918, NA19457, NA19372, NA19235, NA18520, NA19209, NA18973, NA19451, NA19200, NA18638, NA19247, HG01095, NA19391, NA18871, HG01390, HG01047, HG01094, NA18856, NA18912, NA19257, NA19685, NA18953, NA19401, NA19390, NA19321, NA18564, NA19467
Known GenesCENPU
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667890
Frequency
Sample Size1151
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


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