A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615498



Internal ID6655697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:152116842..152232964hg38UCSC Ensembl
chr7:151813927..151930049hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38116123
hg19116123
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1338e214
Supporting Variantsessv13013836, essv13013835, essv13013834, essv13013838, essv13013837, essv13013833
SamplesHG02337, HG02360, NA19355, HG01813, NA19434, HG03882
Known GenesGALNT11, KMT2C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615498
Frequency
Sample Size2504
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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