A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677638



Internal ID9943743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:30351454..30355117hg38UCSC Ensembl
Outerchr12:30351417..30355167hg38UCSC Ensembl
Innerchr12:30504387..30508050hg19UCSC Ensembl
Outerchr12:30504350..30508100hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg383751
hg193751
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6154236
SamplesNA19921
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677638
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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