A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672105



Internal ID9938210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:1572770..1613276hg38UCSC Ensembl
Outerchr20:1572399..1613646hg38UCSC Ensembl
Innerchr20:1553416..1593922hg19UCSC Ensembl
Outerchr20:1553045..1594292hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3841248
hg1941248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv774e199
Supporting Variantsessv6551127, essv6354235, essv5600789, essv5691944, essv6233725, essv6426397, essv5955513, essv5845810, essv6062211, essv5790889, essv6359915, essv5913344, essv5898605, essv6436633, essv5880445, essv6576871, essv6192711, essv6451295, essv5419667, essv6367257, essv6359290, essv6146569, essv5813945, essv6319486, essv5915465, essv6028198, essv5723963, essv6043678, essv6404584, essv6303745, essv5813131, essv6558562, essv6250267, essv5595138, essv5840309, essv6086248, essv5719348, essv6476342, essv6428977, essv6339524, essv6373126, essv6312542, essv5943824, essv5942886, essv6358930, essv6382844, essv5668844, essv6358091, essv6107536, essv5995603, essv6253552, essv5527866, essv6327478, essv5663802, essv6458537, essv5926942, essv5934839, essv5704150, essv5747132, essv6557587, essv6035418, essv5823574, essv6562263, essv5614462, essv6418962, essv6334641, essv6336016, essv6153356, essv6572092, essv5916410, essv6125268
SamplesHG00189, HG00361, HG00187, HG00315, HG00367, HG00318, HG00181, HG00179, HG00177, HG00337, HG00327, HG00271, HG00272, HG00173, HG00330, HG00346, HG00369, HG00270, HG00334, HG00281, HG00277, HG00335, HG00325, HG00309, HG00182, HG00338, HG00326, HG00178, HG00323, HG00313, HG00188, HG00266, HG00183, HG00176, HG00282, HG00328, HG00190, HG00368, HG00320, HG00275, HG00324, HG00284, HG00273, HG00373, HG00331, HG00321, HG00276, HG00336, HG00285, HG00366, HG00353, HG00375, HG00357, HG00278, HG00319, HG00339, HG00312, HG00329, HG00342, HG00267, HG00174, HG00310, HG00186, HG00280, HG00343, HG00377, HG00372, HG00274, HG00171, HG00345, HG00180
Known GenesSIRPB1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672105
Frequency
Sample Size1151
Observed Gain0
Observed Loss71
Observed Complex0
Frequencyn/a


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