A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306795



Internal ID14807057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30967798..30967799hg38UCSC Ensembl
Innerchr12:30967780..30967817hg38UCSC Ensembl
Outerchr12:30967779..30967818hg38UCSC Ensembl
chr12:31120733..31120734hg19UCSC Ensembl
Innerchr12:31120715..31120752hg19UCSC Ensembl
Outerchr12:31120714..31120753hg19UCSC Ensembl
chr12:31012000..31012001hg18UCSC Ensembl
Innerchr12:31012019..31011982hg18UCSC Ensembl
Outerchr12:31011981..31012020hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38306
hg19306
hg18306
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7827408, essv7831841, essv7787492, essv7827654, essv7789757, essv7826124, essv7790058, essv7802234, essv7780117, essv7779706, essv7773978, essv7833859, essv7825546, essv7798097, essv7812929, essv7775075, essv7812494, essv7771164, essv7832766, essv7778580, essv7778186, essv7788948, essv7787238, essv7782033, essv7816393, essv7788653, essv7794546, essv7815100, essv7771760, essv7776548, essv7800437, essv7786505, essv7799508, essv7831367, essv7830638, essv7836604, essv7826365
SamplesNA19141, NA18861, NA18508, NA12814, NA12414, NA18561, NA11920, NA11931, NA12045, NA18545, NA18959, NA18510, NA19005, NA12891, NA19138, NA18964, NA12156, NA19137, NA12044, NA18520, NA19239, NA11993, NA12878, NA18907, NA18499, NA11894, NA12249, NA19099, NA18953, NA12716, NA11881, NA18517, NA19240, NA06986, NA19129, NA18522, NA12776
Known GenesTSPAN11
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306795
Frequency
Sample Size185
Observed Gain37
Observed Loss0
Observed Complex0
Frequencyn/a


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