A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672423



Internal ID9938528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:62991903..62992833hg38UCSC Ensembl
chr8:63904462..63905392hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg38931
hg19931
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6351833, essv5845947, essv5937770, essv6278000, essv6154602, essv5875241, essv6364870, essv5643355
SamplesNA19355, NA19443, NA18923, HG01440, NA19469, NA19470, NA19472, NA19116
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672423
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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