A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630422



Internal ID7017240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:94845527..94856753hg38UCSC Ensembl
Innerchr12:94845537..94856744hg38UCSC Ensembl
Outerchr12:94845518..94856763hg38UCSC Ensembl
chr12:95239303..95250529hg19UCSC Ensembl
Innerchr12:95239313..95250520hg19UCSC Ensembl
Outerchr12:95239294..95250539hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3811227
hg1911227
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14571952
SamplesHG01941
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630422
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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