A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612792



Internal ID6653005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:34177815..34353101hg38UCSC Ensembl
chr7:34217427..34392713hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38175287
hg19175287
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12726013
SamplesHG00446
Known GenesNPSR1-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612792
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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