A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628764



Internal ID7015587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:19551310..19555162hg38UCSC Ensembl
Innerchr12:19551310..19555162hg38UCSC Ensembl
Outerchr12:19551173..19555342hg38UCSC Ensembl
chr12:19704244..19708096hg19UCSC Ensembl
Innerchr12:19704244..19708096hg19UCSC Ensembl
Outerchr12:19704107..19708276hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg383853
hg193853
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14401397
SamplesHG00345
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628764
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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