A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587387



Internal ID6627691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:144915703..145023143hg38UCSC Ensembl
chr1:143984622..144094733hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38107441
hg19110112
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv40e214
Supporting Variantsessv10091205, essv10091241, essv10091207, essv10091227, essv10091208, essv10091239, essv10091226, essv10091214, essv10091237, essv10091216, essv10091218, essv10091240, essv10091236, essv10091242, essv10091235, essv10091224, essv10091222, essv10091221, essv10091238, essv10091232, essv10091228, essv10091220, essv10091212, essv10091217, essv10091209, essv10091225, essv10091210, essv10091211, essv10091223, essv10091234, essv10091215, essv10091204, essv10091233, essv10091206, essv10091219, essv10091229, essv10091231, essv10091230, essv10091213, essv10091243
SamplesHG01443, HG03057, HG00244, NA18530, NA19669, NA20771, HG02792, NA19005, HG02153, NA18597, NA18618, NA19062, HG02816, NA19731, HG02178, HG02571, HG01605, NA19451, NA19200, HG03908, HG01122, HG02380, HG01536, NA19042, NA18531, NA19035, HG02282, HG02557, HG02010, HG02274, HG01933, HG03039, NA20289, NA19726, HG01378, HG00437, NA18562, HG03265, NA18620, HG03196
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587387
Frequency
Sample Size2504
Observed Gain40
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer