A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674697



Internal ID9940802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:39100787..39105122hg38UCSC Ensembl
chr6:39068563..39072898hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg384336
hg194336
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6196103, essv6037463, essv5918472, essv5453470, essv6161984, essv5445851
SamplesNA19189, NA18520, NA19147, NA19712, NA19435, NA18487
Known GenesSAYSD1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674697
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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