A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615499



Internal ID7002388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:152121800..152206193hg38UCSC Ensembl
chr7:151818885..151903278hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3884394
hg1984394
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1338e214
Supporting Variantsessv13013842, essv13013839, essv13013840, essv13013841
SamplesHG02337, HG02360, HG01813, HG03882
Known GenesGALNT11, KMT2C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615499
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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