A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3343164



Internal ID15190149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:54849745..54849756hg38UCSC Ensembl
Innerchr6:54849735..54849763hg38UCSC Ensembl
Outerchr6:54849724..54849774hg38UCSC Ensembl
chr6:54714543..54714554hg19UCSC Ensembl
Innerchr6:54714533..54714561hg19UCSC Ensembl
Outerchr6:54714522..54714572hg19UCSC Ensembl
chr6:54822502..54822513hg18UCSC Ensembl
Innerchr6:54822520..54822492hg18UCSC Ensembl
Outerchr6:54822481..54822531hg18UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8929732, essv8929719, essv8929739, essv8929726, essv8929740, essv8929738, essv8929715, essv8929737, essv8929729, essv8929736, essv8929725, essv8929712, essv8929727, essv8929721, essv8929714, essv8929717, essv8929734, essv8929723, essv8929733, essv8929722, essv8929720, essv8929731, essv8929730, essv8929728, essv8929716, essv8929718
SamplesNA12717, NA11920, NA18486, NA12750, NA07346, NA18489, NA18558, NA11992, NA11993, NA18605, NA12003, NA18871, NA18572, NA18907, NA19114, NA11919, NA18912, NA19099, NA19257, NA18523, NA18909, NA19093, NA19102, NA19116, NA18505, NA18522
Known GenesFAM83B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3343164
Frequency
Sample Size185
Observed Gain26
Observed Loss0
Observed Complex0
Frequencyn/a


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