A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630691



Internal ID7017506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:107474735..107493933hg38UCSC Ensembl
Innerchr12:107474742..107493926hg38UCSC Ensembl
Outerchr12:107474728..107493940hg38UCSC Ensembl
chr12:107868512..107887710hg19UCSC Ensembl
Innerchr12:107868519..107887703hg19UCSC Ensembl
Outerchr12:107868505..107887717hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3819199
hg1919199
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14603410, essv14603407, essv14603409, essv14603408
SamplesHG03126, NA19198, HG02111, HG03433
Known GenesBTBD11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630691
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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