A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3621863



Internal ID7008729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:130547387..130550638hg38UCSC Ensembl
Innerchr9:130547387..130550638hg38UCSC Ensembl
Outerchr9:130547122..130550833hg38UCSC Ensembl
chr9:133422774..133426025hg19UCSC Ensembl
Innerchr9:133422774..133426025hg19UCSC Ensembl
Outerchr9:133422509..133426220hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg383252
hg193252
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13630350, essv13630352, essv13630356, essv13630348, essv13630353, essv13630349, essv13630354, essv13630346, essv13630351, essv13630355, essv13630347
SamplesNA19703, HG03517, HG03139, HG03572, HG03105, HG03520, HG03363, NA19982, NA18907, HG02309, NA19116
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3621863
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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