A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305675



Internal ID14805937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:1250029..1250030hg38UCSC Ensembl
Innerchr10:1250011..1250048hg38UCSC Ensembl
Outerchr10:1250010..1250049hg38UCSC Ensembl
chr10:1292081..1292082hg19UCSC Ensembl
Innerchr10:1292063..1292100hg19UCSC Ensembl
Outerchr10:1292062..1292101hg19UCSC Ensembl
chr10:1282081..1282082hg18UCSC Ensembl
Innerchr10:1282100..1282063hg18UCSC Ensembl
Outerchr10:1282062..1282101hg18UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38303
hg19303
hg18303
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7822369, essv7797836, essv7830973, essv7797595, essv7835974, essv7772970, essv7783479, essv7830267, essv7788114, essv7786541, essv7779084, essv7810527, essv7830514, essv7834705, essv7802981, essv7772074, essv7770322, essv7810274, essv7796588, essv7799206, essv7800110, essv7809813, essv7780924, essv7823860, essv7774679, essv7783745, essv7778294, essv7812882, essv7793709, essv7787172, essv7816699, essv7834909, essv7773354, essv7814360, essv7827436, essv7798395, essv7795550, essv7787521, essv7821827, essv7784850, essv7815547, essv7810922, essv7801483, essv7809526, essv7785889, essv7820498, essv7822634, essv7802476, essv7819743, essv7830411, essv7772299, essv7789280, essv7813539, essv7834008
SamplesNA12717, NA11829, NA12414, NA18561, NA11920, NA18603, NA12045, NA12751, NA18959, NA18526, NA12750, NA18969, NA07346, NA19005, NA18944, NA18940, NA18960, NA18942, NA11992, NA18582, NA18571, NA18964, NA18970, NA12044, NA18638, NA18951, NA12003, NA12872, NA18956, NA18572, NA18948, NA18537, NA18566, NA11919, NA11894, NA12249, NA12144, NA18570, NA18945, NA18576, NA12043, NA18608, NA18953, NA11881, NA18961, NA18952, NA18943, NA07037, NA12749, NA18552, NA12006, NA12154, NA18562, NA18965
Known GenesADARB2
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305675
Frequency
Sample Size185
Observed Gain54
Observed Loss0
Observed Complex0
Frequencyn/a


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