A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675537



Internal ID9941642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:143127749..143196814hg38UCSC Ensembl
chr7:142824842..142893907hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3869066
hg1969066
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6230446, essv6424278, essv5465959, essv5521511, essv5587284, essv5646127, essv5786250
SamplesNA19678, HG00260, NA19675, HG00375, HG01375, HG01055, NA11892
Known GenesPIP, TAS2R39
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675537
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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