A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1246e199



Internal ID18983300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:147314405..147315503hg38UCSC Ensembl
chr7:147011497..147012595hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg381099
hg191099
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2659353, esv2664966
SamplesHG00323, NA12154, NA12489, NA12249, HG01072, NA11920, HG00186, HG01079, NA12828, HG00375, HG00553, HG00139, NA12776, HG00335, NA12341, NA20586, NA20533, HG01061, HG01183, NA12761, HG00357, NA12006, NA12892, HG00268, NA20512, NA11892, NA18942, NA20582, HG00246, NA20813, NA19921, HG00262, NA11993, NA12546, NA19655, HG01125, HG00320, HG01462, HG00272, NA07000
Known GenesCNTNAP2, MIR548I4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv1246e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


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