A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630721



Internal ID7017536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:109549503..109553568hg38UCSC Ensembl
Innerchr12:109549513..109553558hg38UCSC Ensembl
Outerchr12:109549493..109553578hg38UCSC Ensembl
chr12:109987308..109991373hg19UCSC Ensembl
Innerchr12:109987318..109991363hg19UCSC Ensembl
Outerchr12:109987298..109991383hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg384066
hg194066
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14604013, essv14604012, essv14604015, essv14604014
SamplesNA20853, HG03604, HG04185, NA21119
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630721
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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