A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614155



Internal ID6654362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:93146090..93150339hg38UCSC Ensembl
Innerchr7:93146090..93150339hg38UCSC Ensembl
Outerchr7:93145590..93150839hg38UCSC Ensembl
chr7:92775403..92779652hg19UCSC Ensembl
Innerchr7:92775403..92779652hg19UCSC Ensembl
Outerchr7:92774903..92780152hg19UCSC Ensembl
Cytoband7q21.2
Allele length
AssemblyAllele length
hg384250
hg194250
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12890771
SamplesHG01781
Known GenesSAMD9L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614155
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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