A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303207



Internal ID15150155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:60525903..60525904hg38UCSC Ensembl
Innerchr11:60525885..60525922hg38UCSC Ensembl
Outerchr11:60525884..60525923hg38UCSC Ensembl
chr11:60293376..60293377hg19UCSC Ensembl
Innerchr11:60293358..60293395hg19UCSC Ensembl
Outerchr11:60293357..60293396hg19UCSC Ensembl
chr11:60049952..60049953hg18UCSC Ensembl
Innerchr11:60049971..60049934hg18UCSC Ensembl
Outerchr11:60049933..60049972hg18UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg38306
hg19306
hg18306
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7774469, essv7771602, essv7776980, essv7819017, essv7816273, essv7822779, essv7799567, essv7794298, essv7824271, essv7778344, essv7803335, essv7825629, essv7780897, essv7821671, essv7834692, essv7778730, essv7775769, essv7781606, essv7795646, essv7810998, essv7832179, essv7819533, essv7803057, essv7774896, essv7810445, essv7784052, essv7826943, essv7817352, essv7773339, essv7817998, essv7812003, essv7808051, essv7793623, essv7786946, essv7831573, essv7820902, essv7804460, essv7799023, essv7814333, essv7801536
SamplesNA12717, NA18861, NA18980, NA18561, NA18603, NA18545, NA12004, NA19005, NA12812, NA18558, NA18960, NA19138, NA18498, NA18970, NA19239, NA18638, NA10847, NA18605, NA12003, NA18956, NA18948, NA18537, NA11919, NA18555, NA18523, NA18593, NA18945, NA18909, NA18564, NA19240, NA07037, NA18501, NA12749, NA19093, NA19116, NA18552, NA12006, NA18511, NA18522, NA18577
Known GenesMS4A13
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303207
Frequency
Sample Size185
Observed Gain40
Observed Loss0
Observed Complex0
Frequencyn/a


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