A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664750



Internal ID9930855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:77763661..77769678hg38UCSC Ensembl
chr3:77812812..77818829hg19UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg386018
hg196018
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6244423, essv5814454, essv5646755, essv6585498, essv6098090, essv6088589, essv5884811, essv5503667, essv5818054, essv5925266, essv5420626, essv6569397, essv5844847, essv6433555, essv6209336, essv6334489, essv5639973, essv6326764, essv6225274, essv5503104, essv5987171, essv6279824, essv6570920, essv5486673, essv6228413, essv6323803, essv6442444, essv6087128, essv5796140, essv5882472, essv5530054, essv6522147, essv5654586, essv6585238, essv6582541, essv5486363, essv6344128, essv6244377, essv5850030, essv6566853, essv5478945, essv6421365, essv6041624, essv5731677, essv5463495, essv5924661, essv5961306, essv5802671, essv6406817, essv6382073, essv5572009, essv6446837, essv5856399, essv6167438, essv5681440, essv5923091, essv5714288, essv6374243, essv6516128, essv6284750, essv5772774, essv6202330, essv6040425, essv5582400, essv6002412, essv6330623, essv5607112, essv6560295, essv5694749, essv5779122, essv5993597, essv5526407, essv5660287, essv5470296, essv6424675, essv5473744, essv6542878, essv5951138, essv6350723, essv5503167, essv5431916, essv5699813, essv5684721, essv5616373, essv6467292, essv6500131, essv6545879, essv5711348, essv6083810, essv5564566
SamplesNA12717, NA11830, NA19909, NA19204, NA18861, NA19704, NA12045, NA19359, NA18486, NA19355, NA18545, NA18504, NA20346, NA19190, NA19098, NA18510, NA12813, NA19446, NA18967, NA19381, NA19171, NA18944, NA18940, NA18519, NA19201, NA18489, NA19119, NA19131, NA18916, NA11918, NA19457, NA19138, NA18498, NA20287, NA19130, NA19404, NA12761, NA20340, NA19238, NA11994, NA19235, NA19207, NA19159, NA18520, NA19209, NA18975, NA19451, NA19200, NA18951, NA19210, NA19152, NA18956, NA18516, NA18910, NA18976, NA18981, NA18907, NA18537, NA19114, NA11894, NA12892, NA19452, NA19225, NA19160, NA19395, NA18858, NA19436, NA18974, NA18953, NA19375, NA12716, NA19256, NA19147, NA19144, NA18943, NA20281, NA19360, NA12763, NA06994, NA19248, NA18971, NA19093, NA18873, NA18972, NA18552, NA18505, NA18511, NA19153, NA12776, NA19431
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664750
Frequency
Sample Size1151
Observed Gain0
Observed Loss90
Observed Complex0
Frequencyn/a


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