A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630457



Internal ID7017275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:96635304..96659753hg38UCSC Ensembl
Innerchr12:96635304..96659753hg38UCSC Ensembl
Outerchr12:96634804..96660253hg38UCSC Ensembl
chr12:97029082..97053531hg19UCSC Ensembl
Innerchr12:97029082..97053531hg19UCSC Ensembl
Outerchr12:97028582..97054031hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3824450
hg1924450
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14579285
SamplesHG03914
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630457
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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