A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660164



Internal ID9579583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:96487066..96488083hg38UCSC Ensembl
chr7:96116378..96117395hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg381018
hg191018
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5639585, essv6516224, essv6518982, essv5839220, essv5907143, essv6119360, essv5654100, essv5925150, essv6595533, essv6340220, essv5541511, essv5496212, essv5919057, essv6317665, essv6587686, essv5758355, essv5687200, essv5571511, essv6164623, essv5968347, essv5966532, essv5563043, essv6136513, essv5765778, essv5659504, essv6042050, essv5943908, essv6265525, essv5423882, essv6469766, essv6346669, essv5468431, essv6395581, essv5791616, essv6405573, essv6112367, essv6165474, essv5741205, essv6119214, essv6225593, essv5764230, essv6312628, essv5980881, essv6251705, essv6398895, essv6295476, essv5941666, essv6576956, essv6002589, essv6362588, essv5974913, essv6013585, essv5565098, essv6472109, essv5693630, essv6280862, essv6356534, essv6245739, essv6101804
SamplesNA19394, NA18502, HG01060, NA19701, NA19700, NA19397, NA11829, NA19914, NA19704, NA18507, NA19350, NA19092, NA18486, NA19443, NA19381, NA18519, NA19201, NA19382, NA18916, NA19313, NA19138, NA18498, NA19904, NA19130, NA18868, NA19917, NA19371, NA19238, NA19445, NA19921, NA19451, NA19200, NA19210, NA19327, NA20126, NA20344, NA18907, NA19114, NA18853, NA19099, NA19338, NA19469, NA18858, NA19436, NA18909, NA19834, NA19147, NA19712, NA19473, NA19444, NA19380, NA19470, NA19360, NA19818, NA18501, NA19711, NA19213, NA19463, NA18522
Known GenesC7orf76
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660164
Frequency
Sample Size1151
Observed Gain0
Observed Loss59
Observed Complex0
Frequencyn/a


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