A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628725



Internal ID7015549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:18116661..18192739hg38UCSC Ensembl
Innerchr12:18116665..18192735hg38UCSC Ensembl
Outerchr12:18116657..18192743hg38UCSC Ensembl
chr12:18269595..18345673hg19UCSC Ensembl
Innerchr12:18269599..18345669hg19UCSC Ensembl
Outerchr12:18269591..18345677hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3876079
hg1976079
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14400086
SamplesHG01600
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628725
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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