A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675359



Internal ID9594778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:140583251..140584184hg38UCSC Ensembl
chr7:140283051..140283984hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38934
hg19934
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5604539, essv6454769, essv5679630, essv5806232, essv6069491, essv6072533, essv5919950, essv6020758, essv5722424, essv6316856, essv5598844, essv6139854, essv6510892, essv6565940, essv5574827, essv6346075, essv5509284, essv6385207, essv6597304, essv6379379, essv6478178, essv5420865, essv5692491, essv5669708, essv6116479, essv6419516, essv6257203, essv6438302, essv6109079, essv5785694, essv6103966, essv5947676, essv6215406, essv5683389, essv6230495, essv6253283, essv6397944, essv5476348, essv6255787, essv6197037, essv6148657, essv6075547, essv6187610, essv5597710, essv5795446, essv6000158, essv6328955, essv6298364, essv5705173, essv5800093, essv5427057, essv5574763, essv6287758, essv5825908, essv6271192, essv5959363, essv5576796, essv5864905, essv5775999, essv6075082, essv5691471, essv6157230, essv5418480, essv5839440, essv6499865, essv6305121, essv6148985, essv6553623, essv5582291, essv6134842, essv6127785
SamplesNA20281, NA19137, NA19207, NA18870, NA19436, NA18520, NA19904, NA19819, NA18933, HG01055, NA19209, NA19469, NA19435, NA18545, NA20294, NA18516, NA19920, HG00553, NA19210, NA19379, NA19834, NA19257, NA19474, HG01551, NA18873, NA19438, NA18868, NA20340, NA19463, NA19428, NA19383, NA19982, NA18934, NA19239, NA20356, NA19390, NA19900, NA18856, NA19398, NA19457, NA19316, NA19324, NA19213, NA19360, NA19372, NA19393, NA19384, NA18498, NA19102, NA18510, NA19347, NA19332, NA19328, NA18910, NA19711, NA19462, NA18940, NA19921, NA19376, NA19391, NA19394, NA19403, NA19434, NA19099, NA19452, NA19198, NA19315, NA19240, HG00641, NA19350, NA19466
Known GenesDENND2A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675359
Frequency
Sample Size1151
Observed Gain0
Observed Loss71
Observed Complex0
Frequencyn/a


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