A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3372054



Internal ID15219030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:92122224..92122239hg38UCSC Ensembl
Innerchr7:92122214..92122247hg38UCSC Ensembl
Outerchr7:92122199..92122262hg38UCSC Ensembl
chr7:91751538..91751553hg19UCSC Ensembl
Innerchr7:91751528..91751561hg19UCSC Ensembl
Outerchr7:91751513..91751576hg19UCSC Ensembl
chr7:91589474..91589489hg18UCSC Ensembl
Innerchr7:91589497..91589464hg18UCSC Ensembl
Outerchr7:91589449..91589512hg18UCSC Ensembl
Cytoband7q21.2
Allele length
AssemblyAllele length
hg38254
hg19254
hg18254
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8936349, essv8936351, essv8936353, essv8936371, essv8936339, essv8936374, essv8936367, essv8936318, essv8936372, essv8936344, essv8936323, essv8936329, essv8936368, essv8936370, essv8936332, essv8936327, essv8936361, essv8936354, essv8936322, essv8936356, essv8936342, essv8936348, essv8936333, essv8936328, essv8936345, essv8936350, essv8936334, essv8936357, essv8936331, essv8936326, essv8936377, essv8936341, essv8936363, essv8936365, essv8936321, essv8936352, essv8936320, essv8936364, essv8936360, essv8936346, essv8936376, essv8936366, essv8936373, essv8936325, essv8936359, essv8936362, essv8936330, essv8936337, essv8936375, essv8936355, essv8936338, essv8936340, essv8936343, essv8936319, essv8936317
SamplesNA12717, NA18947, NA11995, NA18508, NA10851, NA18980, NA18561, NA11931, NA12045, NA12751, NA12004, NA18870, NA18510, NA12750, NA12155, NA07357, NA07346, NA19005, NA18550, NA18519, NA18960, NA18942, NA18916, NA11918, NA18498, NA18964, NA12044, NA12828, NA10847, NA18605, NA12003, NA18579, NA18572, NA18537, NA18566, NA12249, NA18912, NA18853, NA18555, NA18858, NA18593, NA12716, NA11881, NA19147, NA18517, NA07037, NA06986, NA18501, NA12749, NA19093, NA18505, NA07000, NA18522, NA12154, NA18562
Known GenesCYP51A1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3372054
Frequency
Sample Size185
Observed Gain55
Observed Loss0
Observed Complex0
Frequencyn/a


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