A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670725



Internal ID9936830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:71182071..71185597hg38UCSC Ensembl
chr15:71474410..71477936hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg383527
hg193527
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6513180, essv6410794, essv6567174, essv6351550, essv6533156, essv5812285, essv5771345, essv6257429, essv5870824, essv6186300, essv5816983, essv5858827, essv6369634, essv5974854, essv5909240, essv5659398, essv5983025, essv5696983, essv5796896
SamplesHG00242, HG00257, NA20507, HG00271, HG00272, HG00173, NA12287, NA20513, HG00281, NA12044, HG00183, HG00176, NA20770, HG00284, HG00246, HG00124, NA20804, NA12763, HG00377
Known GenesTHSD4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670725
Frequency
Sample Size1151
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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