A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628727



Internal ID7015551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:18195669..18202715hg38UCSC Ensembl
Innerchr12:18195669..18202715hg38UCSC Ensembl
Outerchr12:18195169..18203215hg38UCSC Ensembl
chr12:18348603..18355649hg19UCSC Ensembl
Innerchr12:18348603..18355649hg19UCSC Ensembl
Outerchr12:18348103..18356149hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg387047
hg197047
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv256e214
Supporting Variantsessv14400091, essv14400093, essv14400094, essv14400096, essv14400092, essv14400095
SamplesHG00650, HG04158, HG02061, HG01840, HG01595, HG00620
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628727
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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