A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672463



Internal ID9938568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:63241881..63243451hg38UCSC Ensembl
chr8:64154439..64156009hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg381571
hg191571
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5726933, essv6421771, essv6397504, essv5674600, essv6538386, essv5907117, essv6088507, essv5941654, essv6575464, essv6115654, essv5916958, essv6546999
SamplesNA18597, NA18558, NA19056, HG00653, NA18626, HG00525, NA18593, NA19003, NA18564, NA18950, NA18984, NA18577
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672463
Frequency
Sample Size1151
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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