A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12193458



Internal ID2195274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:13525301..13607816hg38UCSC Ensembl
Innerchr6:13525313..13607804hg38UCSC Ensembl
Outerchr6:13525289..13607828hg38UCSC Ensembl
chr6:13525533..13608048hg19UCSC Ensembl
Innerchr6:13525545..13608036hg19UCSC Ensembl
Outerchr6:13525521..13608060hg19UCSC Ensembl
Cytoband6p23
Allele length
AssemblyAllele length
hg3882516
hg1982516
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608129
Supporting Variants
SamplesHG04177
Known GenesSIRT5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12193458
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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