A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657488



Internal ID9923593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:115943510..115947745hg38UCSC Ensembl
chr7:115583564..115587799hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg384236
hg194236
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5543729, essv6010270, essv6326587, essv5468029, essv5730045, essv5780107, essv5987506, essv6372495, essv6050976, essv6247821, essv5882575, essv5510482, essv5949574, essv6415914, essv6385226, essv6192138
SamplesHG00650, NA18621, NA20508, NA18545, NA18597, HG00610, NA18582, HG00427, NA18951, NA11893, HG00525, NA19012, HG00662, HG00418, HG00478, HG00131
Known GenesTFEC
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657488
Frequency
Sample Size1151
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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