A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12345133



Internal ID2346949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:50730716..50732072hg38UCSC Ensembl
Innerchr6:50730716..50732072hg38UCSC Ensembl
Outerchr6:50730556..50732227hg38UCSC Ensembl
chr6:50698429..50699785hg19UCSC Ensembl
Innerchr6:50698429..50699785hg19UCSC Ensembl
Outerchr6:50698269..50699940hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg381357
hg191357
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608967
Supporting Variants
SamplesHG00707
Known GenesTFAP2D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12345133
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