A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672768



Internal ID9938873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:50870566..50872183hg38UCSC Ensembl
chr13:51444702..51446319hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg381618
hg191618
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv352e199
Supporting Variantsessv5765124, essv6008495, essv5731961, essv6043943, essv6121804, essv5974436, essv6484140, essv6338272, essv6565314, essv5815656, essv6424545, essv5837064, essv5962327
SamplesNA18502, NA19204, NA18507, NA18519, NA19119, NA19131, NA19172, NA19159, NA18499, NA19225, NA18909, NA18501, NA18505
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672768
Frequency
Sample Size1151
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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