A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657736



Internal ID9577155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:25262880..25266883hg38UCSC Ensembl
chr8:25120396..25124399hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg384004
hg194004
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5828690, essv5818136, essv5899250, essv5477374, essv6334723, essv6391033, essv5561271, essv5618827, essv6234930, essv5778965
SamplesNA19445, NA18871, NA19359, NA19449, NA19236, NA19985, NA19360, NA18522, NA19818, NA19225
Known GenesDOCK5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657736
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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