A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656757



Internal ID9922862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:59708704..59710136hg38UCSC Ensembl
Outerchr12:59708547..59710289hg38UCSC Ensembl
Innerchr12:60102485..60103917hg19UCSC Ensembl
Outerchr12:60102328..60104070hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg381743
hg191743
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv295e199
Supporting Variantsessv6320985, essv6255916, essv5930603, essv6559782, essv5634225, essv5745232, essv6540056, essv5617985, essv5486667, essv5702409, essv6131832, essv5979019, essv5943006, essv6545383, essv6208677
SamplesNA18861, NA19377, NA20336, NA19651, NA19189, NA19985, NA19908, NA19707, NA19455, NA18871, HG01390, NA18853, NA18523, HG01108, NA19474
Known GenesSLC16A7
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656757
Frequency
Sample Size1151
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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