A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662252



Internal ID9928357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:55762604..55788510hg38UCSC Ensembl
Outerchr16:55762233..55788880hg38UCSC Ensembl
Innerchr16:55796516..55822422hg19UCSC Ensembl
Outerchr16:55796145..55822792hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3826648
hg1926648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv496e199
Supporting Variantsessv6098597, essv6253651, essv6488257, essv5399022, essv5465189, essv6090777, essv6226136, essv6029492, essv5409588, essv5774010, essv5461555, essv6278256, essv5535691, essv6562632, essv5864639, essv6544892, essv6400053, essv6519398, essv6471315, essv5987454, essv6119479, essv5682269, essv5406735, essv6597889, essv6390212, essv6105610, essv6114916, essv5523315, essv6503631, essv5967785, essv5490216, essv6547497, essv6347343, essv5530483, essv6559609, essv6403092, essv6394655, essv5705645, essv6310054, essv5788482, essv5604907
SamplesNA19058, NA19055, NA18947, NA18980, NA18999, NA19057, NA19067, NA18967, NA19005, NA18982, NA18960, NA18942, NA19079, NA18949, NA18986, NA19087, NA18990, NA18973, NA19082, NA19070, NA19056, NA19081, NA18976, NA19064, NA19000, NA19084, NA19012, NA18961, NA18950, NA19010, NA18943, NA19085, NA19078, NA18972, NA18983, NA18984, NA18989, NA19004, NA18968, NA19065, NA18965
Known GenesCES1P1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662252
Frequency
Sample Size1151
Observed Gain0
Observed Loss41
Observed Complex0
Frequencyn/a


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