A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12931075



Internal ID730384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:112794871..112842375hg38UCSC Ensembl
chr7:112434926..112482430hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg3847505
hg1947505
Variant TypeCNV gain
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614632
Supporting Variants
SamplesHG00342
Known GenesC7orf60
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12931075
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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