A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675176



Internal ID9594595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:3627692..3629491hg38UCSC Ensembl
Outerchr11:3627655..3629541hg38UCSC Ensembl
Innerchr11:3648922..3650721hg19UCSC Ensembl
Outerchr11:3648885..3650771hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg381887
hg191887
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6510802, essv5436843, essv5930960, essv5416113, essv5980678, essv5917424
SamplesHG01101, HG01048, NA19083, NA19000, NA19189, NA18985
Known GenesTRPC2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675176
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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