A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591244



Internal ID6978572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:72679147..72687643hg38UCSC Ensembl
Innerchr2:72679647..72687143hg38UCSC Ensembl
Outerchr2:72678147..72688643hg38UCSC Ensembl
chr2:72906276..72914772hg19UCSC Ensembl
Innerchr2:72906776..72914272hg19UCSC Ensembl
Outerchr2:72905276..72915772hg19UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg388497
hg198497
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10540350, essv10540348, essv10540347, essv10540349
SamplesNA19789, HG01700, HG01378, HG01618
Known GenesEXOC6B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591244
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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