A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3340082



Internal ID14840352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:31471225..31471237hg38UCSC Ensembl
Innerchr6:31471216..31471246hg38UCSC Ensembl
Outerchr6:31471202..31471258hg38UCSC Ensembl
chr6:31439002..31439014hg19UCSC Ensembl
Innerchr6:31438993..31439023hg19UCSC Ensembl
Outerchr6:31438979..31439035hg19UCSC Ensembl
chr6:31546981..31546993hg18UCSC Ensembl
Innerchr6:31547002..31546972hg18UCSC Ensembl
Outerchr6:31546958..31547014hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38254
hg19254
hg18254
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8928604, essv8928579, essv8928618, essv8928603, essv8928596, essv8928561, essv8928567, essv8928605, essv8928582, essv8928587, essv8928590, essv8928566, essv8928555, essv8928564, essv8928593, essv8928601, essv8928607, essv8928563, essv8928559, essv8928614, essv8928568, essv8928598, essv8928589, essv8928595, essv8928554, essv8928578, essv8928606, essv8928585, essv8928610, essv8928562, essv8928560, essv8928592, essv8928584, essv8928556, essv8928581, essv8928594, essv8928597, essv8928616, essv8928611, essv8928576, essv8928572, essv8928586, essv8928570, essv8928583, essv8928599, essv8928575, essv8928565, essv8928615, essv8928573, essv8928600, essv8928609, essv8928571, essv8928617, essv8928588, essv8928553, essv8928551, essv8928574, essv8928612, essv8928577, essv8928608, essv8928552
SamplesNA18502, NA11830, NA18861, NA18592, NA18508, NA10851, NA12414, NA18980, NA18561, NA18603, NA12045, NA12751, NA18545, NA19190, NA18870, NA18526, NA18510, NA18563, NA18519, NA18489, NA18547, NA18960, NA18916, NA12287, NA19138, NA18498, NA18949, NA12156, NA19172, NA10847, NA18951, NA12003, NA18516, NA18948, NA18907, NA18499, NA18856, NA18912, NA18853, NA19099, NA19257, NA19225, NA18858, NA18593, NA18608, NA18909, NA18952, NA19147, NA18517, NA18564, NA07037, NA06986, NA18501, NA19093, NA19102, NA18505, NA19129, NA12006, NA18522, NA12154, NA18965
Known GenesHCG26
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3340082
Frequency
Sample Size185
Observed Gain61
Observed Loss0
Observed Complex0
Frequencyn/a


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