A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3403077



Internal ID14903353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:47494504..47494513hg38UCSC Ensembl
Innerchr4:47494495..47494520hg38UCSC Ensembl
Outerchr4:47494486..47494529hg38UCSC Ensembl
chr4:47496521..47496530hg19UCSC Ensembl
Innerchr4:47496512..47496537hg19UCSC Ensembl
Outerchr4:47496503..47496546hg19UCSC Ensembl
chr4:47191278..47191287hg18UCSC Ensembl
Innerchr4:47191294..47191269hg18UCSC Ensembl
Outerchr4:47191260..47191303hg18UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg38273
hg19273
hg18273
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8918385, essv8918395, essv8918419, essv8918425, essv8918417, essv8918427, essv8918411, essv8918410, essv8918399, essv8918401, essv8918422, essv8918414, essv8918389, essv8918393, essv8918406, essv8918387, essv8918408, essv8918415, essv8918390, essv8918394, essv8918397, essv8918386, essv8918398, essv8918405, essv8918416, essv8918404, essv8918418, essv8918426, essv8918388, essv8918407, essv8918403, essv8918396, essv8918420, essv8918392, essv8918423, essv8918412, essv8918400, essv8918421, essv8918409
SamplesNA18502, NA12717, NA11830, NA18947, NA11829, NA18561, NA12045, NA19190, NA12155, NA18916, NA11992, NA12761, NA12156, NA19137, NA12044, NA19172, NA11993, NA12003, NA18572, NA18499, NA18912, NA12043, NA18953, NA18909, NA11881, NA18961, NA07051, NA12763, NA06986, NA18501, NA12749, NA19102, NA19116, NA18552, NA18505, NA12006, NA18522, NA12154, NA12776
Known GenesATP10D
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3403077
Frequency
Sample Size185
Observed Gain39
Observed Loss0
Observed Complex0
Frequencyn/a


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