A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677604



Internal ID9943709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:44879385..44889753hg38UCSC Ensembl
chr12:45273168..45283536hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3810369
hg1910369
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv288e199
Supporting Variantsessv6593859, essv6216664, essv6429253, essv5402991, essv6127610, essv6047735, essv6358968, essv6359959, essv6272817
SamplesNA19466, NA19381, NA19382, HG01167, NA19457, NA19904, NA19380, NA19376, NA19346
Known GenesNELL2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677604
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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