A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672010



Internal ID9938115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196764486..196844542hg38UCSC Ensembl
Outerchr1:196764115..196844912hg38UCSC Ensembl
Innerchr1:196733616..196813672hg19UCSC Ensembl
Outerchr1:196733245..196814042hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3880798
hg1980798
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv87e199
Supporting Variantsessv5479051, essv6225713, essv6010172, essv5711120, essv5724449, essv5822389, essv6172998, essv6146061, essv6201530, essv6521392, essv5566517, essv5876070, essv5817569, essv6214327, essv6075805, essv6014005, essv5796789, essv6302500, essv5643652, essv5986608, essv6344224, essv6074841, essv5746681, essv5924186, essv5776506, essv6176670, essv5882482, essv6531199, essv5460547, essv6204166, essv5813576, essv6193340, essv5606775, essv5736093, essv5850832, essv5822756, essv6591332, essv6540949, essv5967831, essv5965881, essv5554856, essv6316842, essv6575450, essv6391751, essv6563717, essv6372067, essv6065329, essv6234123, essv5638877, essv5921040
SamplesNA19394, NA19397, NA19466, NA19399, NA19355, NA19377, NA19443, NA19381, NA19319, NA19382, NA19448, NA19457, NA19313, NA19384, NA19385, NA19445, NA19403, NA19462, NA19347, NA19391, NA19455, NA19461, NA19449, NA19453, NA19452, NA19469, NA19436, NA19401, NA19440, NA19390, NA19434, NA19473, NA19444, NA19331, NA19380, NA19334, NA19439, NA19470, NA19311, NA19360, NA19376, NA19398, NA19328, NA19438, NA19468, NA19430, NA19316, NA19429, NA19346, NA19431
Known GenesCFHR1, CFHR3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672010
Frequency
Sample Size1151
Observed Gain0
Observed Loss50
Observed Complex0
Frequencyn/a


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