A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670597



Internal ID9936702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:102693301..102693655hg38UCSC Ensembl
chr14:103159638..103159992hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg38355
hg19355
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5690008, essv5917726, essv6359345, essv6237964
SamplesHG00231, NA20800, HG00183, NA12272
Known GenesRCOR1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670597
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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