A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678265



Internal ID9597684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:9177056..9230262hg38UCSC Ensembl
Outerchr4:9177019..9230312hg38UCSC Ensembl
Innerchr4:9178782..9231988hg19UCSC Ensembl
Outerchr4:9178745..9232038hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3853294
hg1953294
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv923e199
Supporting Variantsessv6316165, essv5551328, essv6355150, essv6299985, essv5963057, essv5773410, essv5410609
SamplesHG00650, NA19058, NA19055, NA18565, HG00566, HG00705, NA18963
Known GenesUSP17L10, USP17L11, USP17L12, USP17L13, USP17L18, USP17L20, USP17L21
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678265
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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