A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677204



Internal ID9943309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:16755037..16760872hg38UCSC Ensembl
chr7:16794662..16800497hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg385836
hg195836
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5983524, essv6443127, essv5767188, essv6048296, essv6103008, essv6562099, essv5648201, essv5951468, essv5724590, essv6260785, essv6522396
SamplesHG00542, NA19058, NA18635, NA19079, HG00701, HG00475, NA18534, NA18548, NA18576, NA18559, NA18989
Known GenesTSPAN13
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677204
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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