A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662660



Internal ID9582079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:3627686..3630942hg38UCSC Ensembl
Outerchr11:3627315..3631312hg38UCSC Ensembl
Innerchr11:3648916..3652172hg19UCSC Ensembl
Outerchr11:3648545..3652542hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg383998
hg193998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6228350, essv5626500, essv5610595, essv5412861, essv6441997, essv5618291, essv5669924, essv6211370, essv6009138, essv5717449, essv6069540, essv6566601, essv6190735, essv6149454, essv6439609, essv6023768, essv5541164, essv5577418, essv6301011
SamplesNA18595, NA18534, NA18542, NA18541, NA18546, NA18632, NA18624, NA18622, NA18593, NA18620, NA18633, NA18558, NA18599, NA18567, NA18560, NA18577, NA18614, NA18571, NA18615
Known GenesTRPC2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662660
Frequency
Sample Size1151
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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