A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307245



Internal ID14807507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:82878496..82878497hg38UCSC Ensembl
Innerchr16:82878479..82878514hg38UCSC Ensembl
Outerchr16:82878478..82878515hg38UCSC Ensembl
chr16:82912101..82912102hg19UCSC Ensembl
Innerchr16:82912084..82912119hg19UCSC Ensembl
Outerchr16:82912083..82912120hg19UCSC Ensembl
chr16:81469602..81469603hg18UCSC Ensembl
Innerchr16:81469620..81469585hg18UCSC Ensembl
Outerchr16:81469584..81469621hg18UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg3896
hg1996
hg1896
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7807641, essv7826308, essv7806020, essv7790636, essv7794817, essv7801017, essv7814342, essv7836193, essv7781501, essv7810081, essv7831016, essv7830483, essv7779162, essv7831741, essv7806744, essv7784236, essv7830068, essv7774724, essv7835773, essv7829377, essv7825731, essv7821019, essv7834490, essv7833740, essv7812050, essv7815796, essv7808352, essv7770157, essv7785064, essv7817360, essv7816712, essv7796018, essv7819621, essv7815261, essv7819364, essv7826879, essv7826179, essv7822892, essv7771375, essv7805384, essv7812556, essv7790429, essv7796752, essv7798675, essv7827969, essv7810465, essv7811474, essv7828840, essv7792490, essv7822184, essv7798441, essv7823944, essv7789843, essv7788543, essv7780292, essv7823251, essv7773117, essv7775852, essv7814021, essv7783468, essv7832025, essv7797129, essv7824353, essv7803767, essv7787309, essv7783044, essv7778838, essv7788070, essv7810772, essv7799759
SamplesNA18870, NA18964, NA12489, NA18861, NA18520, NA18951, NA18871, NA18561, NA18523, NA18952, NA18501, NA19093, NA18526, NA18550, NA18570, NA10847, NA18603, NA18948, NA18516, NA18517, NA18573, NA18608, NA18542, NA19257, NA18965, NA18505, NA18943, NA12763, NA18508, NA19239, NA18566, NA18576, NA18563, NA12814, NA18592, NA12761, NA18638, NA18956, NA18609, NA18973, NA18593, NA18970, NA19190, NA12716, NA18537, NA19172, NA12892, NA18572, NA06986, NA18522, NA19238, NA18558, NA18564, NA18858, NA18942, NA18961, NA18562, NA18579, NA18945, NA18940, NA18582, NA19138, NA18577, NA12878, NA18499, NA18571, NA19240, NA18853, NA18555, NA07000
Known GenesCDH13
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307245
Frequency
Sample Size185
Observed Gain70
Observed Loss0
Observed Complex0
Frequencyn/a


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