A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664554



Internal ID9930659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:3618945..3621627hg38UCSC Ensembl
chr6:3619179..3621861hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg382683
hg192683
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1070e199
Supporting Variantsessv5691169, essv5648263, essv6186565, essv6476187, essv5812855, essv6451428, essv5574376, essv5627060, essv5564671, essv6107861, essv6432467, essv5569161, essv6584434, essv6233836, essv6139744, essv6594162, essv5592708, essv6518429, essv5638180, essv6476273, essv6034446, essv6093562, essv5786041, essv5596526, essv5474384, essv5909167, essv5797947, essv6482608, essv6395968, essv5550496, essv5913196, essv6508836, essv5874328, essv6231651, essv6433127, essv5473209, essv5697665, essv6353293, essv6184484, essv5991371, essv5978039, essv6136360, essv6068485, essv6419425
SamplesHG00536, HG00559, HG01374, HG00699, HG00566, NA18602, HG00693, HG00663, NA19660, NA18944, NA18982, NA18635, NA18567, HG00610, NA18574, NA18582, NA19088, NA19681, HG01072, NA19731, HG00422, HG00419, NA18605, NA18613, HG00533, HG00500, NA18566, HG00404, HG00531, HG00479, HG00613, NA18555, NA19685, NA18953, NA18535, NA18961, NA18559, HG00625, NA18628, NA12046, HG01137, NA19085, HG00578, HG00581
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664554
Frequency
Sample Size1151
Observed Gain0
Observed Loss44
Observed Complex0
Frequencyn/a


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