A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675371



Internal ID9941476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55518268..55553120hg38UCSC Ensembl
chr5:54814096..54848948hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3834853
hg1934853
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6291776, essv5622076, essv6585241, essv6446761, essv5549982, essv5468811, essv5820171, essv6388941, essv5426287, essv6022822, essv5868701, essv6426236, essv6201572, essv5730529, essv6310061, essv5892218, essv5676809, essv6230732, essv6163318, essv6456871, essv5699309, essv5806707, essv6328603, essv6574342, essv5423553, essv5432922, essv5668630, essv6168128, essv5796749, essv5560878, essv6567568, essv6277622, essv5736336, essv6462062, essv5466434, essv5475507, essv5521849
SamplesNA18502, NA11995, NA18861, NA11931, NA18870, NA18526, NA07357, NA07346, NA18582, NA18949, NA19238, NA18973, NA18638, NA18951, NA18605, NA12489, NA12878, NA18871, NA18537, NA19114, NA18499, NA12249, NA12892, NA19099, NA19257, NA18555, NA18593, NA12043, NA18542, NA18952, NA18564, NA19240, NA07037, NA12006, NA07000, NA18522, NA18577
Known GenesPPAP2A, RNF138P1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675371
Frequency
Sample Size1151
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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