A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670875



Internal ID9936980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:46882536..46898449hg38UCSC Ensembl
chr1:47348208..47364121hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3815914
hg1915914
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6039779, essv6586786, essv6041475, essv6433316, essv6207344, essv6404918, essv5412112, essv5697966
SamplesHG00592, HG00663, HG00422, HG00543, HG00436, HG00651, NA18632, HG00593
Known GenesCYP4Z2P
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670875
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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