A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661723



Internal ID9927828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21358127..21417733hg38UCSC Ensembl
Outerchr22:21357756..21418103hg38UCSC Ensembl
Innerchr22:21712416..21772022hg19UCSC Ensembl
Outerchr22:21712045..21772392hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3860348
hg1960348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6348421, essv5437836, essv5603267, essv5758746, essv5642839, essv5870494, essv6223938, essv5684324, essv5508148, essv5537064, essv6427322, essv5508216, essv6561941, essv5733309, essv6463249, essv5998655, essv6575534, essv5899941, essv6561980, essv6307190, essv5604291, essv6387002, essv5856406, essv5943157, essv5808668, essv5602379, essv5872984, essv5998911, essv5989304, essv6490167, essv6436638, essv6285481, essv6553866, essv6272917, essv5676961, essv6519690, essv5785067, essv6575536, essv5565819, essv6354535, essv6216892, essv5506256, essv6015860, essv6430067, essv6341416, essv6457353, essv6166539
SamplesNA12717, NA11830, NA11995, NA11829, NA12414, NA11933, NA12045, NA12751, NA12004, NA12400, NA12750, NA12399, NA12155, NA12341, NA07346, NA11992, NA07048, NA11918, NA07347, NA12761, NA11930, NA12156, NA06984, NA12044, NA11994, NA12828, NA11993, NA10847, NA12489, NA12003, NA11893, NA11894, NA12778, NA12716, NA11881, NA12272, NA07051, NA12046, NA07037, NA12763, NA06994, NA12749, NA11843, NA12006, NA07000, NA12154, NA12776
Known GenesHIC2, RIMBP3B, RIMBP3C
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661723
Frequency
Sample Size1151
Observed Gain0
Observed Loss47
Observed Complex0
Frequencyn/a


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