A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661434



Internal ID9927539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:60460691..60461913hg38UCSC Ensembl
chr11:60228164..60229386hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg381223
hg191223
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6377128, essv6450522, essv6392719, essv6103617, essv5782982, essv5823518, essv5887808, essv5545708, essv6018022, essv5424608, essv6008151, essv6099509, essv5731915, essv6503899, essv6131172, essv6505496, essv6369243, essv6493037, essv6504600, essv5696432, essv5787149, essv6025383, essv5574243, essv6484853, essv5861799, essv6084440, essv5469369, essv6032894, essv5607631, essv6243622, essv6350018, essv6568519, essv5657168
SamplesHG00626, HG00650, HG01462, NA18599, NA19684, HG01250, HG01350, HG01351, NA18595, HG00537, HG01176, NA19007, NA18605, HG01360, NA19077, HG00500, HG00690, HG01101, NA18553, HG01497, NA19009, NA18541, NA18546, HG00476, NA18543, NA18559, HG00734, NA19783, NA18615, HG01489, HG00698, NA19661, HG01191
Known GenesMS4A1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661434
Frequency
Sample Size1151
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer