A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6487148



Internal ID9441768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:37851191..37858872hg38UCSC Ensembl
Outerchr13:37851154..37858922hg38UCSC Ensembl
Innerchr13:38425328..38433009hg19UCSC Ensembl
Outerchr13:38425291..38433059hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg387769
hg197769
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2661529
Supporting Variants
SamplesNA18853
Known GenesTRPC4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6487148
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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