A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670699



Internal ID9590118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148150081..148154431hg38UCSC Ensembl
chr7:147847173..147851523hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg384351
hg194351
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5462946, essv6416203
SamplesNA19404, NA19446
Known GenesCNTNAP2, MIR548T
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670699
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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