A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670181



Internal ID9936286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:149480791..149481750hg38UCSC Ensembl
chr6:149801927..149802886hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg38960
hg19960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5455603, essv5909589, essv5969540, essv6325009, essv6528748, essv5634522, essv5409076
SamplesNA19058, NA19372, HG00253, HG00176, HG00276, NA19473, NA19311
Known GenesZC3H12D
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670181
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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