A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304955



Internal ID14805217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:72117121..72117122hg38UCSC Ensembl
Innerchr5:72117093..72117150hg38UCSC Ensembl
Outerchr5:72117092..72117151hg38UCSC Ensembl
chr5:71412948..71412949hg19UCSC Ensembl
Innerchr5:71412920..71412977hg19UCSC Ensembl
Outerchr5:71412919..71412978hg19UCSC Ensembl
chr5:71448704..71448705hg18UCSC Ensembl
Innerchr5:71448733..71448676hg18UCSC Ensembl
Outerchr5:71448675..71448734hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38304
hg19304
hg18304
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7744636, essv7759326, essv7743569, essv7741986, essv7741289, essv7751147, essv7753620, essv7748081, essv7748775, essv7759962, essv7762467, essv7746631, essv7742727, essv7752126, essv7755607, essv7741437, essv7749151, essv7751825, essv7745257, essv7745529, essv7763265, essv7761424, essv7759062, essv7743785, essv7744941, essv7754058, essv7750858, essv7758541, essv7756599, essv7746289, essv7749450, essv7758796
SamplesNA18947, NA18508, NA18980, NA18603, NA18959, NA18526, NA18550, NA18558, NA18942, NA19138, NA18498, NA18964, NA18638, NA19210, NA18956, NA18516, NA18871, NA18948, NA18907, NA18499, NA18856, NA18853, NA18593, NA18542, NA18909, NA19108, NA18961, NA19147, NA18501, NA18552, NA19129, NA18965
Known GenesMAP1B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304955
Frequency
Sample Size185
Observed Gain32
Observed Loss0
Observed Complex0
Frequencyn/a


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