A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3437222



Internal ID14937489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:105836109..105836119hg38UCSC Ensembl
Innerchr2:105836101..105836127hg38UCSC Ensembl
Outerchr2:105836091..105836137hg38UCSC Ensembl
chr2:106452565..106452575hg19UCSC Ensembl
Innerchr2:106452557..106452583hg19UCSC Ensembl
Outerchr2:106452547..106452593hg19UCSC Ensembl
chr2:105818997..105819007hg18UCSC Ensembl
Innerchr2:105819015..105818989hg18UCSC Ensembl
Outerchr2:105818979..105819025hg18UCSC Ensembl
Cytoband2q12.2
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 Variantsessv8907611, essv8907617, essv8907568, essv8907573, essv8907606, essv8907587, essv8907601, essv8907620, essv8907605, essv8907590, essv8907579, essv8907619, essv8907585, essv8907615, essv8907589, essv8907603, essv8907571, essv8907583, essv8907610, essv8907576, essv8907562, essv8907588, essv8907563, essv8907599, essv8907572, essv8907604, essv8907596, essv8907608, essv8907607, essv8907575, essv8907565, essv8907582, essv8907577, essv8907578, essv8907598, essv8907593, essv8907570, essv8907595, essv8907616, essv8907574, essv8907564, essv8907594, essv8907621, essv8907612, essv8907586, essv8907597, essv8907584, essv8907614, essv8907600, essv8907567, essv8907609, essv8907592, essv8907566, essv8907618, essv8907581
SamplesNA18502, NA12717, NA11830, NA11995, NA11829, NA18508, NA10851, NA11931, NA18504, NA18870, NA18510, NA18944, NA18940, NA18550, NA18519, NA18489, NA18547, NA18942, NA18916, NA19137, NA19172, NA18520, NA18605, NA12003, NA18871, NA18907, NA18537, NA18573, NA19114, NA11919, NA18499, NA18856, NA18532, NA19099, NA19257, NA19225, NA18523, NA18570, NA18858, NA18945, NA12043, NA18909, NA19108, NA18517, NA18564, NA18501, NA12749, NA19093, NA18609, NA18505, NA19129, NA07000, NA18522, NA18562, NA18577
Known GenesNCK2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3437222
Frequency
Sample Size185
Observed Gain55
Observed Loss0
Observed Complex0
Frequencyn/a


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