A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12067122



Internal ID6270553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:135079922..135086531hg38UCSC Ensembl
Innerchr5:135079922..135086531hg38UCSC Ensembl
Outerchr5:135079710..135086603hg38UCSC Ensembl
chr5:134415612..134422221hg19UCSC Ensembl
Innerchr5:134415612..134422221hg19UCSC Ensembl
Outerchr5:134415400..134422293hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg386610
hg196610
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606855
Supporting Variants
SamplesNA19788
Known GenesC5orf66
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12067122
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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