A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8911596



Internal ID13189792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:2920310..2920322hg38UCSC Ensembl
Innerchr3:2920301..2920331hg38UCSC Ensembl
Outerchr3:2920289..2920340hg38UCSC Ensembl
chr3:2961994..2962006hg19UCSC Ensembl
Innerchr3:2961985..2962015hg19UCSC Ensembl
Outerchr3:2961973..2962024hg19UCSC Ensembl
chr3:2936994..2937006hg18UCSC Ensembl
Innerchr3:2937015..2936985hg18UCSC Ensembl
Outerchr3:2936973..2937024hg18UCSC Ensembl
Cytoband3p26.2
Allele length
AssemblyAllele length
hg38284
hg19284
hg18284
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3355385
Supporting Variants
SamplesNA12751
Known GenesCNTN4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8911596
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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