A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677155



Internal ID9596574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:9512781..9514372hg38UCSC Ensembl
chr5:9512893..9514484hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg381592
hg191592
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6238730, essv5982389, essv6587512, essv6379350, essv6330729
SamplesHG00577, HG00584, HG00635, HG00613, HG00513
Known GenesSEMA5A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677155
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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