A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658939



Internal ID9578358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:24964831..24965510hg38UCSC Ensembl
chr4:24966453..24967132hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg38680
hg19680
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6479446, essv6240968, essv6590618, essv6174092, essv6300350, essv5748529, essv6305815, essv6450170, essv6033204, essv5759855, essv6539033, essv6336854, essv5463356, essv5506269, essv5590728, essv5928196, essv5876045, essv6373300, essv5891200, essv6299069, essv6177281, essv6537977, essv5601087, essv6024718, essv6462123, essv6053122, essv5803172, essv5834427, essv6242906, essv5406562, essv5970869, essv6075248, essv5739355, essv6434285, essv5624170, essv6560773, essv6278833, essv6463464, essv6467079, essv6043766, essv6476149, essv5681292, essv6200731, essv5753304, essv5533273, essv6514458, essv6275803, essv6462207, essv5857813, essv6266104, essv5607566, essv6161068, essv6266281, essv6318191, essv6527823, essv6518891, essv6260799, essv6322640, essv6515033, essv6313475, essv5906849, essv6458124, essv6037847, essv5441088, essv6016923
SamplesNA19137, NA19207, NA19625, NA18520, NA18933, NA19093, HG00449, NA19469, HG00707, HG00428, NA18947, HG01491, NA18608, NA19210, NA18507, NA18868, HG00556, NA19428, NA19239, HG00593, HG00583, NA18622, NA19197, NA19443, NA18991, HG00689, HG00628, NA19774, NA18973, NA18916, NA18593, HG00662, NA19324, NA19190, NA19213, NA19377, NA19759, NA19372, HG00653, NA19374, NA19375, NA19102, HG00559, NA18522, HG00501, NA19901, HG01356, NA19909, HG00513, HG00512, NA19707, NA19729, NA18599, NA20332, NA19446, HG01390, NA19770, NA19225, NA18917, NA18571, NA19470, NA19240, NA18532, NA18853, HG00684
Known GenesCCDC149
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658939
Frequency
Sample Size1151
Observed Gain0
Observed Loss65
Observed Complex0
Frequencyn/a


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