A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664145



Internal ID9583564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:65814760..66395282hg38UCSC Ensembl
chr7:65279747..65860269hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38580523
hg19580523
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5413558, essv5430874, essv5655563, essv6386166, essv5434643, essv6452364, essv6289805, essv5571533, essv5698829, essv5948119, essv6350037, essv6375489, essv5626013, essv6046291, essv6469936, essv5610933, essv6022200, essv6450787, essv5896870, essv5942760, essv5549137, essv5982447, essv5748219, essv6117235, essv5488004, essv5940780, essv6378782, essv6435312, essv5845957, essv5399857, essv6285592, essv5424877, essv6468506, essv6594028, essv5780849, essv5967369, essv6146382
SamplesNA12342, HG00274, NA19003, HG00707, HG00463, HG01051, HG00475, NA18541, HG00683, HG00280, HG01101, HG00319, NA19780, NA19472, HG00592, NA19917, HG00689, HG00258, NA18973, NA19679, HG00237, HG00343, HG00584, NA19676, HG00436, NA19716, HG01073, NA18613, HG01060, HG00589, HG01095, HG00443, NA18565, NA18602, HG00708, HG01462, NA19779
Known GenesASL, CRCP, GUSB, LINC00174, TPST1, VKORC1L1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664145
Frequency
Sample Size1151
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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