A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12559644



Internal ID2310970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:134482039..134484650hg38UCSC Ensembl
Innerchr6:134482050..134484640hg38UCSC Ensembl
Outerchr6:134482029..134484661hg38UCSC Ensembl
chr6:134803177..134805788hg19UCSC Ensembl
Innerchr6:134803188..134805778hg19UCSC Ensembl
Outerchr6:134803167..134805799hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg382612
hg192612
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610880
Supporting Variants
SamplesHG02058
Known GenesLINC01010
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12559644
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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