A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304106



Internal ID14804368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:47494498..47494499hg38UCSC Ensembl
Innerchr4:47494481..47494516hg38UCSC Ensembl
Outerchr4:47494480..47494517hg38UCSC Ensembl
chr4:47496515..47496516hg19UCSC Ensembl
Innerchr4:47496498..47496533hg19UCSC Ensembl
Outerchr4:47496497..47496534hg19UCSC Ensembl
chr4:47191272..47191273hg18UCSC Ensembl
Innerchr4:47191290..47191255hg18UCSC Ensembl
Outerchr4:47191254..47191291hg18UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg38283
hg19283
hg18283
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7818196, essv7822272, essv7799959, essv7827261, essv7780064, essv7799323, essv7797732, essv7788647, essv7811931, essv7784141, essv7800774, essv7815804, essv7778601, essv7783491, essv7793770, essv7834382, essv7834963, essv7817730, essv7792261, essv7827834, essv7805155, essv7823419, essv7785596, essv7806995, essv7821459, essv7781145, essv7816424, essv7812679, essv7812758, essv7804544, essv7801052, essv7822007, essv7808504, essv7776517, essv7814856, essv7833828, essv7809994, essv7835567, essv7787038, essv7786437, essv7798826, essv7802623, essv7833422, essv7816085, essv7832687, essv7783931
SamplesNA19137, NA11881, NA12154, NA12043, NA18561, NA18501, NA18953, NA18947, NA12776, NA07051, NA18505, NA12044, NA12763, NA18912, NA12155, NA12814, NA12761, NA18916, NA12234, NA19190, NA12006, NA19172, NA12892, NA18572, NA19102, NA06986, NA18522, NA18502, NA12872, NA18961, NA12891, NA18552, NA18909, NA12749, NA12812, NA12156, NA19116, NA11830, NA11992, NA12003, NA11993, NA18499, NA12045, NA11829, NA12717, NA12874
Known GenesATP10D
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304106
Frequency
Sample Size185
Observed Gain46
Observed Loss0
Observed Complex0
Frequencyn/a


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