A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3611953



Internal ID6998855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:4865590..4969763hg38UCSC Ensembl
Innerchr7:4866090..4969263hg38UCSC Ensembl
Outerchr7:4864590..4970763hg38UCSC Ensembl
chr7:4905221..5009394hg19UCSC Ensembl
Innerchr7:4905721..5008894hg19UCSC Ensembl
Outerchr7:4904221..5010394hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38104174
hg19104174
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1249e214
Supporting Variantsessv12671531, essv12671530
SamplesNA19917, HG01491
Known GenesMMD2, RADIL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3611953
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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