A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12068677



Internal ID5597633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:136286165..136289717hg38UCSC Ensembl
Innerchr5:136286165..136289717hg38UCSC Ensembl
Outerchr5:136285922..136289972hg38UCSC Ensembl
chr5:135621853..135625405hg19UCSC Ensembl
Innerchr5:135621853..135625405hg19UCSC Ensembl
Outerchr5:135621610..135625660hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg383553
hg193553
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606877
Supporting Variants
SamplesNA19031
Known GenesTRPC7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12068677
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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