A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678960



Internal ID9945065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:60931232..60934338hg38UCSC Ensembl
Outerchr13:60930861..60934708hg38UCSC Ensembl
Innerchr13:61505366..61508472hg19UCSC Ensembl
Outerchr13:61504995..61508842hg19UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg383848
hg193848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5440310, essv6352163, essv6183527, essv5595351, essv5863539, essv6255771, essv6209878, essv6412561, essv6596855, essv5410928, essv6290678, essv6227047, essv5910741, essv5580208, essv6540832, essv5907815, essv6583894, essv5846352
SamplesNA19466, NA19350, NA19443, NA19382, NA19372, NA19455, NA19449, NA19453, NA19452, NA19440, NA19473, NA19444, NA19331, NA19467, NA19376, NA19468, NA19430, NA19346
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678960
Frequency
Sample Size1151
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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