A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304685



Internal ID14804947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:56454666..56454667hg38UCSC Ensembl
Innerchr19:56454648..56454685hg38UCSC Ensembl
Outerchr19:56454647..56454686hg38UCSC Ensembl
chr19:56966035..56966036hg19UCSC Ensembl
Innerchr19:56966017..56966054hg19UCSC Ensembl
Outerchr19:56966016..56966055hg19UCSC Ensembl
chr19:61657847..61657848hg18UCSC Ensembl
Innerchr19:61657866..61657829hg18UCSC Ensembl
Outerchr19:61657828..61657867hg18UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg38308
hg19308
hg18308
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7788222, essv7777711, essv7828340, essv7804145, essv7776117, essv7804696, essv7821493, essv7819059, essv7818075, essv7803728, essv7824537, essv7811509, essv7801174, essv7781298, essv7815349, essv7831373, essv7819904, essv7795191, essv7800022, essv7785131, essv7786133, essv7813023, essv7834216, essv7771035, essv7777240, essv7800544, essv7782660, essv7813591, essv7827192, essv7772336, essv7799165, essv7788632, essv7833786, essv7780983, essv7836607, essv7829696, essv7828684, essv7783968, essv7816417, essv7793429, essv7784542, essv7810428, essv7774333, essv7787958
SamplesNA12717, NA11995, NA12814, NA10851, NA12004, NA18510, NA12750, NA07357, NA12812, NA18916, NA11918, NA19137, NA19238, NA12044, NA11994, NA12828, NA10847, NA12003, NA12234, NA19114, NA11840, NA18856, NA12249, NA12892, NA19225, NA12144, NA18570, NA18945, NA18608, NA12716, NA18909, NA11881, NA18564, NA19240, NA12873, NA07051, NA06986, NA19143, NA12749, NA19093, NA18552, NA18505, NA12006, NA12154
Known GenesZNF667
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304685
Frequency
Sample Size185
Observed Gain44
Observed Loss0
Observed Complex0
Frequencyn/a


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