A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671710



Internal ID9591129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:32039150..32039466hg38UCSC Ensembl
chr5:32039256..32039572hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6008385, essv6393875, essv5400244, essv6282416, essv5672424, essv5493900, essv6140552, essv6403793, essv6121549, essv6155515, essv5886947, essv5620198, essv5559887, essv6301491, essv6547408
SamplesHG00313, NA18951, NA18557, HG01140, NA18638, HG00436, NA19785, NA19759, HG01073, NA18613, NA19720, HG01390, HG00708, NA18610, HG01489
Known GenesPDZD2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671710
Frequency
Sample Size1151
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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