A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12913776



Internal ID2915592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:105370987..105549944hg38UCSC Ensembl
chr7:105011434..105190391hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg38178958
hg19178958
Variant TypeCNV gain
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614417
Supporting Variants
SamplesHG02017
Known GenesPUS7, RINT1, SRPK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12913776
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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