A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8677900



Internal ID14755049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:75495826..75495845hg38UCSC Ensembl
Innerchr12:75495822..75495849hg38UCSC Ensembl
Outerchr12:75495803..75495868hg38UCSC Ensembl
chr12:75889606..75889625hg19UCSC Ensembl
Innerchr12:75889602..75889629hg19UCSC Ensembl
Outerchr12:75889583..75889648hg19UCSC Ensembl
chr12:74175873..74175892hg18UCSC Ensembl
Innerchr12:74175896..74175869hg18UCSC Ensembl
Outerchr12:74175850..74175915hg18UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3373789
Supporting Variants
SamplesNA19240
Known GenesGLIPR1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8677900
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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