A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669319



Internal ID9935424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:5573628..5573926hg38UCSC Ensembl
chr1:5633688..5633986hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38299
hg19299
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6173891, essv6208210, essv6506229, essv5607342, essv5636736, essv6149955, essv5826814, essv6410575, essv6305492, essv5608106, essv6463945, essv6496995, essv5453155, essv5889786, essv6355678, essv6234181, essv6476038, essv5399348, essv5587877, essv5928382, essv5560026, essv6452914, essv6429604, essv6346612, essv5400393, essv5478691, essv5603993, essv6036715, essv6498314, essv6334378, essv5483457
SamplesNA19397, HG00524, NA18486, NA12004, NA19098, NA12750, NA12813, NA18967, NA19374, NA19373, NA19171, HG00501, NA18558, NA18916, NA12044, HG01440, NA12828, NA18975, NA11993, NA18956, NA18853, NA18523, NA19625, HG00375, NA07051, NA19818, HG00329, NA12749, NA18972, NA19312, NA19463
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669319
Frequency
Sample Size1151
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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