A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663217



Internal ID9929322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:75111633..75112143hg38UCSC Ensembl
chr17:73107728..73108238hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38511
hg19511
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6342612, essv6134571, essv6397536, essv5464881, essv6146350, essv6403702, essv5463353, essv6576267, essv5506371, essv5441964, essv6312202, essv5950047, essv6273673, essv6130256, essv5995901, essv6143448
SamplesNA18502, HG00640, NA20294, NA19355, NA19098, HG01051, NA19197, NA19138, NA19239, NA19462, NA19461, NA18499, NA19257, HG01375, NA19248, NA19102
Known GenesARMC7
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663217
Frequency
Sample Size1151
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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