A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675470



Internal ID9941575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:150261102..150261171hg38UCSC Ensembl
chr5:149640665..149640734hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5557409, essv5929223, essv5660531, essv6019444, essv6169007, essv6340331, essv5789821, essv5459247, essv5833720, essv6199664, essv5965960, essv5626785, essv5491303, essv5549649, essv5638486, essv6027169, essv6517769, essv6047540, essv5887322, essv5816927, essv5841945, essv6431278, essv5608136, essv6112407, essv6116493, essv6292556, essv6535613, essv5616554, essv5682107, essv5794279
SamplesNA18502, NA11830, NA12004, NA18504, NA18526, NA19005, NA18550, NA12891, NA18558, NA18571, NA18964, NA12005, NA18973, NA11993, NA18951, NA18605, NA12003, NA18956, NA18948, NA18907, NA18537, NA11919, NA11894, NA19257, NA18555, NA19225, NA18576, NA18952, NA18562, NA18965
Known GenesCAMK2A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675470
Frequency
Sample Size1151
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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