A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615034



Internal ID7001923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:131171904..131175861hg38UCSC Ensembl
Innerchr7:131171910..131175856hg38UCSC Ensembl
Outerchr7:131171899..131175867hg38UCSC Ensembl
chr7:130856663..130860620hg19UCSC Ensembl
Innerchr7:130856669..130860615hg19UCSC Ensembl
Outerchr7:130856658..130860626hg19UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg383958
hg193958
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12972155
SamplesHG03775
Known GenesMKLN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615034
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