A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676443



Internal ID9942548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:135315391..135317177hg38UCSC Ensembl
Outerchr5:135315354..135317227hg38UCSC Ensembl
Innerchr5:134651081..134652867hg19UCSC Ensembl
Outerchr5:134651044..134652917hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg381874
hg191874
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6439211, essv6273058, essv6017384
SamplesHG01183, NA19461, NA19429
Known GenesC5orf66
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676443
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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