A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12067197



Internal ID6693719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:135608940..135618826hg38UCSC Ensembl
Innerchr5:135608966..135618801hg38UCSC Ensembl
Outerchr5:135608915..135618852hg38UCSC Ensembl
chr5:134944630..134954516hg19UCSC Ensembl
Innerchr5:134944656..134954491hg19UCSC Ensembl
Outerchr5:134944605..134954542hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg389887
hg199887
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606865
Supporting Variants
SamplesNA20821
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12067197
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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