A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656716



Internal ID9922821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:38793163..38793268hg38UCSC Ensembl
chr12:39186965..39187070hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38106
hg19106
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5988895, essv5616613, essv6197189, essv6312610, essv5754835, essv6418083, essv5504879, essv6312416, essv6470208, essv6563197, essv5746133, essv6491917, essv5973902, essv5858394, essv5900604, essv6296785, essv6254553, essv5432165, essv6256487, essv5975818, essv5673005, essv6158532, essv5640420
SamplesNA19704, NA19359, NA18486, NA18870, NA19374, NA19381, NA19319, NA20317, HG00736, NA19138, NA19904, NA19901, NA19462, NA19455, NA19236, NA18856, NA20296, NA19440, NA20289, NA19661, NA19430, NA18488, NA19463
Known GenesCPNE8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656716
Frequency
Sample Size1151
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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