A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671982



Internal ID9938087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:61667027..61667469hg38UCSC Ensembl
Outerchr5:61666990..61667519hg38UCSC Ensembl
Innerchr5:60962854..60963296hg19UCSC Ensembl
Outerchr5:60962817..60963346hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38530
hg19530
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6164347, essv6108979, essv6468004
SamplesNA19359, NA19375, NA19108
Known GenesC5orf64
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671982
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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