A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663562



Internal ID9929667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:12393047..12393956hg38UCSC Ensembl
chr6:12393279..12394188hg19UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg38910
hg19910
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5491559, essv6386182, essv6252882, essv5494012, essv5652652, essv6065478, essv5615001, essv5532690, essv5441442, essv5828738, essv6164519, essv6412356, essv6473762, essv5974424, essv6565272, essv6448683, essv6481502, essv6323885, essv5826039, essv6451879, essv6311781, essv5899879, essv5724126, essv5597844, essv6042107, essv6005045, essv5745967, essv5815390, essv5794507, essv6064298, essv6393202
SamplesHG00671, NA18980, NA18999, NA18545, NA18959, HG00449, NA18597, NA18960, NA18618, NA19054, NA19079, NA18611, NA18985, NA18973, NA18867, HG00464, NA18605, HG00596, HG00320, HG00619, HG00708, HG00635, HG00651, NA18541, NA18576, NA18632, HG00607, HG00578, NA18552, NA19074, HG00581
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663562
Frequency
Sample Size1151
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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