A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606878



Internal ID6993813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:136293221..136304816hg38UCSC Ensembl
Innerchr5:136293371..136304666hg38UCSC Ensembl
Outerchr5:136293071..136304966hg38UCSC Ensembl
chr5:135628909..135640504hg19UCSC Ensembl
Innerchr5:135629059..135640354hg19UCSC Ensembl
Outerchr5:135628759..135640654hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3811596
hg1911596
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12068679
SamplesHG01710
Known GenesTRPC7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606878
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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