A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628772



Internal ID7015595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:19762975..19763974hg38UCSC Ensembl
Innerchr12:19762975..19763974hg38UCSC Ensembl
Outerchr12:19762814..19764164hg38UCSC Ensembl
chr12:19915909..19916908hg19UCSC Ensembl
Innerchr12:19915909..19916908hg19UCSC Ensembl
Outerchr12:19915748..19917098hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14403278
SamplesNA18633
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628772
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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