A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657669



Internal ID9577088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:128489573..128493079hg38UCSC Ensembl
Outerchr3:128489202..128493449hg38UCSC Ensembl
Innerchr3:128208416..128211922hg19UCSC Ensembl
Outerchr3:128208045..128212292hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg384248
hg194248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6180388, essv5575727, essv5927764, essv5529839, essv5560704, essv5673786, essv5776543, essv5582893, essv5797751, essv5627872, essv6521846, essv6365927, essv6121659, essv5397534, essv6427353, essv6374436, essv5989473, essv5940964, essv5441819, essv5986877, essv5440019, essv5681647, essv6047165, essv6407040, essv5578862, essv6215774, essv6331802, essv6318231, essv5787589, essv6193989, essv6291396, essv6210907, essv5960139, essv6448893, essv5461481, essv6125096, essv5595639
SamplesHG00323, HG00309, HG00313, HG00318, HG00182, HG00344, HG00328, HG00274, HG00186, HG00310, HG00326, HG00270, HG00280, HG00335, HG00319, HG00342, HG00321, HG00339, HG00346, HG00338, HG00284, HG00343, HG00373, HG00268, HG00325, HG00185, HG00176, HG00282, HG00277, HG00329, HG00181, HG00281, HG00285, HG00320, HG00336, HG00272, HG00271
Known GenesGATA2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657669
Frequency
Sample Size1151
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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