A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671391



Internal ID9937496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:3029630..3033694hg38UCSC Ensembl
chr8:2887152..2891216hg19UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg384065
hg194065
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6446656, essv5970738, essv6118081, essv6102965, essv5729402, essv6265636, essv6235549, essv6366649, essv5547528
SamplesNA20532, HG00640, NA12004, HG01051, NA19723, NA20795, HG01171, NA20530, HG00553
Known GenesCSMD1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671391
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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