A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661991



Internal ID9928096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:136286178..136289684hg38UCSC Ensembl
Outerchr5:136286141..136289734hg38UCSC Ensembl
Innerchr5:135621866..135625372hg19UCSC Ensembl
Outerchr5:135621829..135625422hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg383594
hg193594
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6278410
SamplesNA19467
Known GenesTRPC7
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661991
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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