A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8957217



Internal ID13939553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:44670582..44670596hg38UCSC Ensembl
Innerchr12:44670573..44670605hg38UCSC Ensembl
Outerchr12:44670559..44670619hg38UCSC Ensembl
chr12:45064365..45064379hg19UCSC Ensembl
Innerchr12:45064356..45064388hg19UCSC Ensembl
Outerchr12:45064342..45064402hg19UCSC Ensembl
chr12:43350632..43350646hg18UCSC Ensembl
Innerchr12:43350655..43350623hg18UCSC Ensembl
Outerchr12:43350609..43350669hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38281
hg19281
hg18281
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3439749
Supporting Variants
SamplesNA18532
Known GenesNELL2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8957217
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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