A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615500



Internal ID6655699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:152249649..152274469hg38UCSC Ensembl
chr7:151946734..151971554hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3824821
hg1924821
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13013844, essv13013843, essv13013845
SamplesHG01813, HG03882, HG02337
Known GenesKMT2C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615500
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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