A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303223



Internal ID15150171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:173865541..173865542hg38UCSC Ensembl
Innerchr4:173865524..173865559hg38UCSC Ensembl
Outerchr4:173865523..173865560hg38UCSC Ensembl
chr4:174786692..174786693hg19UCSC Ensembl
Innerchr4:174786675..174786710hg19UCSC Ensembl
Outerchr4:174786674..174786711hg19UCSC Ensembl
chr4:175023267..175023268hg18UCSC Ensembl
Innerchr4:175023285..175023250hg18UCSC Ensembl
Outerchr4:175023249..175023286hg18UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg38127
hg19127
hg18127
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7773108, essv7775932, essv7809536, essv7797826, essv7782466, essv7813413, essv7829077, essv7817721, essv7809875, essv7827921, essv7832735, essv7780084, essv7831074, essv7834409, essv7796560, essv7778078, essv7788779, essv7820629, essv7780423, essv7773976, essv7814964, essv7821179, essv7793482, essv7826775, essv7835610, essv7833301, essv7771226, essv7811300, essv7827598, essv7772466, essv7806501, essv7801796, essv7787219, essv7775441, essv7790343, essv7822335, essv7807638
SamplesNA11830, NA10851, NA12414, NA18561, NA11931, NA12751, NA07357, NA07346, NA12891, NA18558, NA07347, NA18571, NA12761, NA19238, NA18973, NA11993, NA18951, NA12489, NA12878, NA12872, NA18579, NA18871, NA18572, NA19114, NA19099, NA18555, NA12144, NA18593, NA18542, NA12716, NA12873, NA12874, NA06986, NA18552, NA12154, NA12776, NA18965
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303223
Frequency
Sample Size185
Observed Gain37
Observed Loss0
Observed Complex0
Frequencyn/a


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