A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615036



Internal ID7001925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:131255660..131263853hg38UCSC Ensembl
Innerchr7:131255660..131263853hg38UCSC Ensembl
Outerchr7:131255559..131263945hg38UCSC Ensembl
chr7:130940419..130948612hg19UCSC Ensembl
Innerchr7:130940419..130948612hg19UCSC Ensembl
Outerchr7:130940318..130948704hg19UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg388194
hg198194
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12972159
SamplesHG01174
Known GenesMKLN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615036
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