A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670878



Internal ID2903965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:148935098..148935427hg38UCSC Ensembl
chr1:144949062..144949391hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6187125, essv6143068, essv5621874, essv6369195, essv6054558, essv5592884, essv6409100, essv5634968, essv6455514, essv5406821, essv5696306, essv5761849, essv5988531, essv5508813, essv6256572, essv6513396, essv5841937, essv5505176, essv6198424, essv6474578, essv5965597, essv5516103, essv6486397, essv6432162, essv5733046, essv5650556, essv5768139
SamplesNA19436, NA19712, NA18595, NA18933, HG01079, NA18516, NA20778, NA20786, NA07051, HG00280, NA20505, NA18638, NA20282, NA19313, NA18537, NA20126, HG00559, HG00501, HG01069, HG00512, HG01070, NA18543, NA18552, NA18567, HG00663, NA18499, NA19439
Known GenesLOC100288142, NBPF9, PDE4DIP
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670878
Frequency
Sample Size1151
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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