A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630304



Internal ID7017123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:88600660..88601523hg38UCSC Ensembl
Innerchr12:88600660..88601523hg38UCSC Ensembl
Outerchr12:88600400..88601790hg38UCSC Ensembl
chr12:88994437..88995300hg19UCSC Ensembl
Innerchr12:88994437..88995300hg19UCSC Ensembl
Outerchr12:88994177..88995567hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg38864
hg19864
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14565568
SamplesNA18544
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630304
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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