A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669724



Internal ID9935829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:9597716..9598726hg38UCSC Ensembl
chr5:9597828..9598838hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg381011
hg191011
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5524164, essv6221631, essv5964723, essv5404267, essv6543771, essv5548770, essv5584921, essv6281838, essv6148961, essv6110464, essv6570062, essv5534948, essv6381958, essv5840103, essv5610869, essv6115020, essv6257428, essv5719061, essv5570395, essv5398077, essv5988840, essv5791777, essv5827465, essv6592274, essv5785651, essv6341840, essv6362037, essv6125834, essv5839161, essv6401326, essv5509544, essv5979934, essv5765041, essv5927599, essv5554926, essv6212033, essv5504770, essv5598026, essv6140125, essv5600737, essv5457959, essv6458139, essv5617715, essv5622270, essv5439935, essv6067267, essv6481227, essv5947506, essv5660959, essv6057789, essv6586256, essv5436882, essv5717558, essv5753870, essv5768256, essv5525946, essv5990941, essv6517235, essv6362963, essv6588990, essv5625385, essv6110775, essv5526173, essv6241643, essv5401125, essv5419760, essv5999462, essv5438241, essv5778402, essv5625346, essv6567928, essv5594993, essv5726784, essv6478647, essv6179967, essv6558402
SamplesNA19394, NA11830, NA12286, HG00100, NA11920, HG01389, HG00318, HG01465, NA20805, NA18530, HG00179, NA18616, HG00654, NA12399, HG01140, NA07346, NA19068, HG00641, NA18595, NA20795, NA20769, NA18942, NA19313, NA19054, NA18964, HG01110, HG01134, HG01455, NA20518, HG00637, HG01550, HG00419, HG00108, NA19007, NA10847, HG00731, NA20800, HG00443, NA19070, NA20810, HG00584, NA20506, NA19064, NA19654, HG01383, HG01101, HG00613, NA19059, NA18555, HG00276, HG00463, HG00246, NA19685, HG00258, NA18542, NA18533, NA12716, NA20276, NA18950, HG00580, NA12272, HG00136, HG00278, NA19380, HG01108, NA12347, HG00111, NA12830, NA11843, NA20503, HG00345, NA18522, NA12154, HG00554, NA18549, NA18487
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669724
Frequency
Sample Size1151
Observed Gain0
Observed Loss76
Observed Complex0
Frequencyn/a


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