A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674583



Internal ID9594002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:31388388..31485340hg38UCSC Ensembl
chr6:31356165..31453117hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3896953
hg1996953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1098e199
Supporting Variantsessv6444643, essv5734545, essv6028909, essv6371410
SamplesHG01140, NA19079, HG00740, NA20276
Known GenesHCG26, HCP5, MICA
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674583
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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