A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667206



Internal ID9586625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:112109644..112109807hg38UCSC Ensembl
chr6:112430847..112431010hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38164
hg19164
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5737658, essv6389394, essv5440249, essv5956772, essv5629723, essv6074300, essv5758696, essv5797684, essv6314057, essv5803384, essv5942777, essv6325264, essv6380532, essv6501396, essv6071154, essv6456890, essv5835837, essv6506966, essv5457862, essv6282135, essv6069591, essv5462798, essv6134413, essv6171876, essv5997777, essv6286227, essv5854603, essv6057826, essv5660664, essv5564820, essv6105681, essv6350838, essv5721959, essv5929235, essv6204873, essv6324083, essv6575062, essv6099359, essv6472984, essv5703748, essv6340563, essv6407387
SamplesNA19700, NA19703, HG01462, NA18508, HG01359, NA19399, NA19350, NA19359, NA20294, NA19443, NA19396, NA19448, NA19197, NA19904, NA19371, NA19238, NA19901, NA18520, NA19456, NA18908, NA19247, NA18933, NA19236, NA19449, NA18856, HG01497, NA19099, NA18523, NA19469, NA18909, NA19834, NA19321, NA19147, NA19435, NA19240, NA20504, NA19470, NA19474, NA19116, NA19900, NA18488, NA18522
Known GenesLAMA4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667206
Frequency
Sample Size1151
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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