A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668319



Internal ID9934424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:15859492..15866342hg38UCSC Ensembl
Outerchr1:15859334..15866513hg38UCSC Ensembl
Innerchr1:16185987..16192837hg19UCSC Ensembl
Outerchr1:16185829..16193008hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg387180
hg197180
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6100111, essv6530617
SamplesHG00654, NA18534
Known GenesSPEN
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668319
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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