A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670271



Internal ID9936376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:52559510..52564934hg38UCSC Ensembl
chr14:53026228..53031652hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg385425
hg195425
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6256844, essv6091875, essv6379989, essv5586740, essv6280629, essv6477780, essv5860550
SamplesNA18633, HG00702, HG00657, NA18572, HG00684, NA18564, NA18609
Known GenesGPR137C
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670271
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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